Variant report

Variant	rs10150588
Chromosome Location	chr14:104197266-104197267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104197026-104197321	K562	blood:	n/a	n/a
2	TBP	chr14:104197086-104197286	K562	blood:	n/a	n/a
3	ZBTB7A	chr14:104197176-104197302	K562	blood:	n/a	n/a
4	TAL1	chr14:104196969-104197456	K562	blood:	n/a	n/a
5	MXI1	chr14:104196956-104197314	K562	blood:	n/a	n/a
6	NR2F2	chr14:104196912-104197339	K562	blood:	n/a	n/a
7	ZNF143	chr14:104196917-104197303	K562	blood:	n/a	n/a
8	UBTF	chr14:104197015-104197368	K562	blood:	n/a	n/a
9	RCOR1	chr14:104197116-104197312	K562	blood:	n/a	n/a
10	YY1	chr14:104197002-104197366	K562	blood:	n/a	n/a
11	USF1	chr14:104196919-104197314	K562	blood:	n/a	n/a
12	EGR1	chr14:104197032-104197327	K562	blood:	n/a	n/a
13	USF1	chr14:104196876-104197407	K562	blood:	n/a	n/a
14	EGR1	chr14:104196999-104197364	K562	blood:	n/a	n/a
15	POLR2A	chr14:104196986-104197391	K562	blood:	n/a	n/a
16	RCOR1	chr14:104196934-104197419	K562	blood:	n/a	n/a
17	GABPA	chr14:104197037-104197365	K562	blood:	n/a	n/a
18	NR2F2	chr14:104197013-104197355	K562	blood:	n/a	n/a
19	HCFC1	chr14:104197079-104197323	K562	blood:	n/a	n/a
20	MAZ	chr14:104196903-104197369	K562	blood:	n/a	n/a
21	POLR2A	chr14:104196979-104197394	K562	blood:	n/a	n/a
22	HDAC2	chr14:104196979-104197386	K562	blood:	n/a	n/a
23	BHLHE40	chr14:104196955-104197434	K562	blood:	n/a	n/a
24	MAX	chr14:104196753-104197430	K562	blood:	n/a	n/a
25	MYC	chr14:104197066-104197281	K562	blood:	n/a	n/a
26	POLR2A	chr14:104196369-104197299	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr14:104196951-104197287	K562	blood:	n/a	n/a
28	IRF1	chr14:104197017-104197409	K562	blood:	n/a	n/a
29	TBL1XR1	chr14:104197110-104197380	K562	blood:	n/a	n/a
30	EP300	chr14:104197104-104197320	K562	blood:	n/a	n/a
31	YY1	chr14:104197099-104197287	K562	blood:	n/a	n/a
32	GATA1	chr14:104197057-104197317	PBDEFetal	blood:	n/a	n/a
33	PML	chr14:104196952-104197375	K562	blood:	n/a	n/a
34	MAX	chr14:104196934-104197426	K562	blood:	n/a	n/a
35	FOSL1	chr14:104197043-104197303	K562	blood:	n/a	n/a
36	POLR2A	chr14:104197089-104197378	K562	blood:	n/a	n/a
37	IRF1	chr14:104197137-104197431	K562	blood:	n/a	n/a
38	CCNT2	chr14:104197053-104197337	K562	blood:	n/a	n/a
39	REST	chr14:104197110-104197308	K562	blood:	n/a	n/a
40	GATA2	chr14:104196995-104197406	K562	blood:	n/a	n/a
41	GABPA	chr14:104197106-104197346	K562	blood:	n/a	n/a
42	TEAD4	chr14:104196988-104197343	K562	blood:	n/a	n/a
43	EP300	chr14:104197021-104197375	K562	blood:	n/a	n/a
44	CEBPD	chr14:104197016-104197393	K562	blood:	n/a	n/a
45	MYC	chr14:104196898-104197349	K562	blood:	n/a	n/a
46	STAT5A	chr14:104197027-104197387	K562	blood:	n/a	n/a
47	HMGN3	chr14:104196904-104197332	K562	blood:	n/a	n/a
48	TEAD4	chr14:104196973-104197362	K562	blood:	n/a	n/a
49	CBX3	chr14:104197016-104197388	K562	blood:	n/a	n/a
50	MYC	chr14:104196921-104197358	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:
2	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
3	chr14:104196055..104198700-chr14:104202542..104204837,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL049840.1-2	chr14:104195428-104197782	NONHSAT040207

No data

Variant related genes	Relation type
ZFYVE21	TF binding region
ENSG00000166165	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2295144	0.81[EUR][1000 genomes]
rs2295150	0.93[EUR][1000 genomes]
rs3825550	0.81[EUR][1000 genomes]
rs58451902	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
13	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
3	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
6	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:104190600-104198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:104190600-104199600	Strong transcription	Dnd41	blood
9	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:104190800-104198400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:104191400-104201400	Strong transcription	Fetal Stomach	stomach
17	chr14:104191400-104201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:104191600-104197400	Genic enhancers	Right Ventricle	heart
19	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:104191800-104201600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:104192000-104201000	Strong transcription	NHLF	lung
22	chr14:104192200-104198000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr14:104192200-104199200	Strong transcription	NHEK	skin
24	chr14:104192200-104200400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:104192200-104201000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:104192200-104201600	Strong transcription	Placenta	Placenta
27	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:104192400-104198400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:104193200-104200000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:104193400-104201400	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:104193800-104197400	Genic enhancers	Esophagus	oesophagus
32	chr14:104194000-104198200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:104194000-104198800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:104194000-104199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:104194000-104200200	Strong transcription	Aorta	Aorta
36	chr14:104194000-104200400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:104194000-104201000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:104194000-104201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
40	chr14:104194200-104197400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:104194200-104197400	Enhancers	Fetal Heart	heart
42	chr14:104194200-104197600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:104194200-104201600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:104194200-104205600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
46	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
48	chr14:104194600-104197400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:104194600-104198400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:104194600-104198400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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