Variant report

Variant	rs2683324
Chromosome Location	chr8:19172217-19172218
allele	C/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	MAX	chr8:19170243-19172391	HCT-116	colon:	n/a	chr8:19171900-19171909
2	MAX	chr8:19169636-19172462	A549	lung:	n/a	chr8:19171900-19171909
3	HA-E2F1	chr8:19170121-19172297	MCF-7	breast:	n/a	chr8:19171092-19171102 chr8:19171468-19171477 chr8:19171605-19171615 chr8:19171735-19171745
4	POLR2A	chr8:19170059-19172322	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr8:19170270-19172356	A549	lung:	n/a	n/a
6	USF1	chr8:19171632-19172253	A549	lung:	n/a	chr8:19171948-19171964
7	MAX	chr8:19170044-19172278	Hela-S3	cervix:	n/a	chr8:19171900-19171909
8	MAX	chr8:19170384-19172228	HepG2	liver:	n/a	chr8:19171900-19171909
9	MAX	chr8:19170779-19172261	ECC-1	luminal epithelium:	n/a	chr8:19171900-19171909
10	MAX	chr8:19170433-19172299	HepG2	liver:	n/a	chr8:19171900-19171909
11	POLR2A	chr8:19170106-19172221	Hela-S3	cervix:	n/a	n/a
12	USF1	chr8:19171649-19172279	ECC-1	luminal epithelium:	n/a	chr8:19171948-19171964
13	MXI1	chr8:19171676-19172367	Hela-S3	cervix:	n/a	chr8:19171901-19171910 chr8:19171903-19171912
14	NFIC	chr8:19171556-19172260	ECC-1	luminal epithelium:	n/a	n/a
15	FOXA2	chr8:19170475-19172230	A549	lung:	n/a	n/a
16	MXI1	chr8:19170877-19172460	IMR90	lung:	n/a	chr8:19171901-19171910 chr8:19171903-19171912
17	EP300	chr8:19170093-19172344	A549	lung:	n/a	chr8:19170374-19170384 chr8:19171943-19171959 chr8:19170772-19170786
18	POLR2A	chr8:19170721-19172339	U87	brain:	n/a	n/a
19	CTCF	chr8:19170014-19172887	A549	lung:	n/a	chr8:19172051-19172064 chr8:19170321-19170329 chr8:19171897-19171910 chr8:19172020-19172033
20	MYC	chr8:19169657-19172222	A549	lung:	n/a	chr8:19171900-19171909
21	USF1	chr8:19171785-19172223	H1-hESC	embryonic stem cell:	n/a	chr8:19171948-19171964
22	POLR2A	chr8:19170102-19172333	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:19169881-19172312	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr8:19170016-19172238	A549	lung:	n/a	chr8:19171092-19171102 chr8:19171468-19171477 chr8:19171605-19171615 chr8:19171735-19171745
25	MAX	chr8:19169999-19172364	A549	lung:	n/a	chr8:19171900-19171909
26	USF1	chr8:19171707-19172239	A549	lung:	n/a	chr8:19171948-19171964
27	TBP	chr8:19171723-19172239	Hela-S3	cervix:	n/a	n/a
28	SP1	chr8:19170027-19172290	A549	lung:	n/a	chr8:19171467-19171481 chr8:19171344-19171354 chr8:19171345-19171354 chr8:19171343-19171355 chr8:19171340-19171354 chr8:19171344-19171353 chr8:19171495-19171504 chr8:19171343-19171355 chr8:19171468-19171477 chr8:19171344-19171354
29	RXRA	chr8:19171934-19172246	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr8:19169800-19172479	A549	lung:	n/a	chr8:19171846-19171853 chr8:19171506-19171513
31	POLR2A	chr8:19170721-19172333	U87	brain:	n/a	n/a
32	FOSL2	chr8:19171789-19172358	A549	lung:	n/a	n/a
33	MAX	chr8:19170329-19172276	HCT-116	colon:	n/a	chr8:19171900-19171909

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19142668..19144947-chr8:19171540..19174164,2	MCF-7	breast:
2	chr8:19169455..19173162-chr8:19175391..19178341,5	MCF-7	breast:

Variant related genes	Relation type
SH2D4A	TF binding region
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2139767	0.90[ASN][1000 genomes]
rs4921635	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6997589	0.81[JPT][hapmap]
rs7005298	0.95[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7006741	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19170200-19172400	Active TSS	Rectal Smooth Muscle	rectum
2	chr8:19170400-19172400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:19170400-19172400	Enhancers	Fetal Brain Male	brain
4	chr8:19170600-19172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:19170600-19172400	Active TSS	Brain Hippocampus Middle	brain
6	chr8:19170600-19172400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:19170600-19172400	Active TSS	Right Atrium	heart
8	chr8:19170600-19172400	Active TSS	Right Ventricle	heart
9	chr8:19170600-19172600	Active TSS	A549	lung
10	chr8:19170800-19172400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:19170800-19172400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:19170800-19172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:19170800-19172400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:19170800-19172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:19171000-19172400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:19171000-19172400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:19171000-19172400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:19171000-19172400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:19171000-19172400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:19171000-19172400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:19171000-19172400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:19171000-19172400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:19171000-19172400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:19171000-19172400	Active TSS	Fetal Intestine Small	intestine
25	chr8:19171000-19172400	Active TSS	Ovary	ovary
26	chr8:19171000-19172400	Active TSS	Hela-S3	cervix
27	chr8:19171000-19172400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr8:19171000-19172600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:19171000-19172600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:19171000-19172600	Active TSS	NHDF-Ad	bronchial
31	chr8:19171000-19172800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:19171000-19172800	Active TSS	HepG2	liver
33	chr8:19171000-19173400	Active TSS	Duodenum Mucosa	Duodenum
34	chr8:19171200-19172400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:19171200-19172400	Active TSS	Stomach Smooth Muscle	stomach
36	chr8:19171200-19173000	Active TSS	NHLF	lung
37	chr8:19171200-19173200	Active TSS	Osteobl	bone
38	chr8:19171400-19172400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:19171400-19172400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr8:19171400-19172400	Active TSS	Colonic Mucosa	Colon
41	chr8:19171400-19172400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:19171400-19172400	Active TSS	HSMMtube	muscle
43	chr8:19171400-19172400	Active TSS	NH-A	brain
44	chr8:19171600-19172400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr8:19171800-19172400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:19171800-19172400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr8:19171800-19172400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:19171800-19172400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr8:19171800-19172400	Active TSS	Fetal Stomach	stomach
50	chr8:19172000-19172400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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