Variant report

Variant	rs2839684
Chromosome Location	chr10:44882201-44882202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:44882055-44882342	Lung_OC	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
2	CTCF	chr10:44882120-44882270	AG04449	skin:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
3	CTCF	chr10:44882028-44882390	HCT-116	colon:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
4	CTCF	chr10:44882017-44882307	HepG2	liver:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
5	CTCF	chr10:44881944-44882727	SK-N-SH	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
6	CTCF	chr10:44882042-44882352	GM19238	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
7	CTCF	chr10:44882012-44882402	A549	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
8	ELK1	chr10:44882201-44882301	K562	blood:	n/a	n/a
9	YY1	chr10:44882037-44882316	GM12891	blood:	n/a	n/a
10	CTCF	chr10:44882080-44882230	HEK293	kidney:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
11	CTCF	chr10:44882009-44882349	A549	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
12	CTCF	chr10:44882050-44882325	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
13	CTCF	chr10:44882005-44882510	HCT-116	colon:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
14	ZNF143	chr10:44881498-44882423	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:44882022-44882360	T-47D	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
16	ZC3H11A	chr10:44882157-44882214	K562	blood:	n/a	n/a
17	UBTF	chr10:44882127-44882327	K562	blood:	n/a	n/a
18	CTCF	chr10:44882160-44882310	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
19	CTCF	chr10:44882160-44882310	HPF	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
20	CTCF	chr10:44882083-44882285	HepG2	liver:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
21	CTCF	chr10:44882066-44882321	LNCaP	prostate:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
22	CTCF	chr10:44882050-44882324	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
23	CTCF	chr10:44882140-44882290	HPAF	blood vessel:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
24	TBL1XR1	chr10:44882061-44882293	GM12878	blood:	n/a	n/a
25	CTCF	chr10:44882057-44882290	ECC-1	luminal epithelium:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
26	CTCF	chr10:44882041-44882345	GM12891	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
27	CTCFL	chr10:44882078-44882238	K562	blood:	n/a	chr10:44882177-44882186
28	CTCF	chr10:44882079-44882292	GM20000	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
29	BCLAF1	chr10:44881995-44882274	GM12878	blood:	n/a	n/a
30	RAD21	chr10:44882008-44882869	SK-N-SH	brain:	n/a	chr10:44882173-44882192 chr10:44882176-44882189 chr10:44882175-44882187 chr10:44882177-44882191 chr10:44882179-44882188
31	CTCF	chr10:44882080-44882230	HVMF	connective:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
32	YY1	chr10:44882006-44882407	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr10:44882086-44882642	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:44882120-44882270	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
35	CTCF	chr10:44882140-44882290	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
36	CTCF	chr10:44882100-44882250	WERI-Rb-1	eye:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
37	CTCF	chr10:44882120-44882270	GM12869	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
38	CEBPB	chr10:44882105-44882260	HepG2	liver:	n/a	n/a
39	CTCF	chr10:44882140-44882290	BJ	skin:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
40	CTCF	chr10:44881998-44882402	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
41	SMC3	chr10:44881960-44882361	HepG2	liver:	n/a	chr10:44882177-44882191 chr10:44882184-44882191
42	CTCF	chr10:44882061-44882325	GM10266	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
43	MAX	chr10:44882029-44882313	A549	lung:	n/a	chr10:44882242-44882251
44	MAZ	chr10:44881880-44882366	IMR90	lung:	n/a	chr10:44882242-44882251
45	RAD21	chr10:44882005-44882478	ECC-1	luminal epithelium:	n/a	chr10:44882173-44882192 chr10:44882176-44882189 chr10:44882175-44882187 chr10:44882177-44882191 chr10:44882179-44882188
46	CTCF	chr10:44882160-44882310	AG04450	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
47	CTCF	chr10:44882064-44882328	Kidney_OC	kidney:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
48	STAT1	chr10:44882113-44882283	GM12878	blood:	n/a	n/a
49	RAD21	chr10:44881907-44882405	A549	lung:	n/a	chr10:44882173-44882192 chr10:44882176-44882189 chr10:44882175-44882187 chr10:44882177-44882191 chr10:44882179-44882188
50	CTCF	chr10:44882140-44882290	GM12873	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44166808..44167608-chr10:44882043..44882606,2	MCF-7	breast:
2	chr10:44779480..44780239-chr10:44881943..44882604,2	K562	blood:

Variant related genes	Relation type
CXCL12	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17156287	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17482472	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17879548	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880358	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880863	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17881575	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883339	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17885289	0.93[ASN][1000 genomes]
rs197452	0.93[ASN][1000 genomes]
rs2839680	0.96[ASN][1000 genomes]
rs2839682	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2839686	0.93[ASN][1000 genomes]
rs2861442	0.96[ASN][1000 genomes]
rs3780891	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7093481	0.90[ASN][1000 genomes]
rs72790861	0.93[ASN][1000 genomes]
rs72790862	0.93[ASN][1000 genomes]
rs728142	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv550699	chr10:44868257-44882203	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv895090	chr10:44874867-44884959	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv895091	chr10:44875040-44888130	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv895092	chr10:44875166-44884959	Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv895093	chr10:44876461-44884959	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv895094	chr10:44876499-44884959	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv895095	chr10:44876586-44884959	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv895096	chr10:44876586-44886206	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv895097	chr10:44876586-44888130	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv550700	chr10:44878064-44882203	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv895099	chr10:44878114-44884959	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv895100	chr10:44878835-44884959	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3375268	chr10:44878846-44883969	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44879000-44882400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr10:44879400-44882600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr10:44879600-44882400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:44880000-44882400	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr10:44880200-44882600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:44881000-44882600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:44881000-44884600	Weak transcription	Psoas Muscle	Psoas
8	chr10:44881000-44884600	Weak transcription	NHDF-Ad	bronchial
9	chr10:44881200-44882400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:44881200-44882600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr10:44881200-44884200	Weak transcription	Liver	Liver
12	chr10:44881200-44884200	Weak transcription	Right Atrium	heart
13	chr10:44881200-44884400	Weak transcription	Left Ventricle	heart
14	chr10:44881400-44882600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:44881400-44882600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr10:44881600-44882400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr10:44881600-44882400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr10:44881600-44882400	Enhancers	Right Ventricle	heart
19	chr10:44881600-44882600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr10:44881800-44882400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr10:44881800-44882400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr10:44881800-44882400	Enhancers	Pancreas	Pancrea
23	chr10:44881800-44882600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:44881800-44882600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr10:44882000-44882400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:44882000-44882400	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr10:44882000-44882800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:44882000-44884200	Weak transcription	Adipose Nuclei	Adipose
29	chr10:44882200-44882400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:44882200-44882400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:44882200-44882400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr10:44882200-44882400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:44882200-44882400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:44882200-44882400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr10:44882200-44882400	Enhancers	Fetal Heart	heart
36	chr10:44882200-44882400	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr10:44882200-44882400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr10:44882200-44882400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr10:44882200-44882400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:44882200-44882400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr10:44882200-44882400	Flanking Active TSS	NH-A	brain
42	chr10:44882200-44882400	Flanking Active TSS	NHLF	lung
43	chr10:44882200-44882600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:44882200-44882600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:44882200-44882600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr10:44882200-44882600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr10:44882200-44882600	Enhancers	Ovary	ovary
48	chr10:44882200-44882600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr10:44882200-44882600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:44882200-44882600	Active TSS	HepG2	liver

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