Variant report

Variant	rs7538679
Chromosome Location	chr1:213033824-213033825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:213033818-213034770	K562	blood:	n/a	n/a
2	GATA1	chr1:213032868-213034975	K562	blood:	n/a	chr1:213033557-213033570 chr1:213033559-213033566
3	TBL1XR1	chr1:213033797-213034683	K562	blood:	n/a	n/a
4	TEAD4	chr1:213033337-213034987	K562	blood:	n/a	n/a
5	TEAD4	chr1:213033346-213034754	K562	blood:	n/a	n/a
6	CBX3	chr1:213033576-213034754	K562	blood:	n/a	n/a
7	NR2F2	chr1:213033341-213034925	K562	blood:	n/a	n/a
8	GATA1	chr1:213033438-213034675	PBDE	blood:	n/a	chr1:213033557-213033570 chr1:213033559-213033566
9	CHD1	chr1:213033597-213034481	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF384	chr1:213033429-213034655	K562	blood:	n/a	n/a
11	TAL1	chr1:213033435-213034768	K562	blood:	n/a	n/a
12	EP300	chr1:213033447-213034664	K562	blood:	n/a	n/a
13	CREB1	chr1:213033795-213034861	K562	blood:	n/a	n/a
14	IRF1	chr1:213033552-213034679	K562	blood:	n/a	n/a
15	JUN	chr1:213033807-213034562	K562	blood:	n/a	n/a
16	GATA2	chr1:213033727-213034712	K562	blood:	n/a	n/a
17	ARID3A	chr1:213033673-213034649	K562	blood:	n/a	n/a
18	KAP1	chr1:213033657-213034638	K562	blood:	n/a	n/a
19	ZNF384	chr1:213033491-213033853	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:213033007-213034945	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
2	chr1:213027721..213030641-chr1:213032667..213035705,3	K562	blood:
3	chr1:213029061..213031968-chr1:213032486..213034078,2	K562	blood:
4	chr1:212965461..212968054-chr1:213031452..213034127,2	MCF-7	breast:
5	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
6	chr1:212782866..212786640-chr1:213033437..213035689,3	K562	blood:

No data

Variant related genes	Relation type
FLVCR1-AS1	TF binding region
FLVCR1	TF binding region
ENSG00000203705	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000236317	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11799556	1.00[AMR][1000 genomes]
rs11801900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804851	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807916	1.00[AMR][1000 genomes]
rs17019640	1.00[AMR][1000 genomes]
rs17019657	1.00[AMR][1000 genomes]
rs17019749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17019770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505349	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55787749	1.00[AMR][1000 genomes]
rs55827218	1.00[AMR][1000 genomes]
rs55879002	0.80[AFR][1000 genomes]
rs56012560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60334006	1.00[AMR][1000 genomes]
rs6684313	1.00[AMR][1000 genomes]
rs6685348	1.00[AMR][1000 genomes]
rs6700258	1.00[AMR][1000 genomes]
rs74138622	1.00[AMR][1000 genomes]
rs74138623	1.00[AMR][1000 genomes]
rs74138629	1.00[AMR][1000 genomes]
rs74138630	1.00[AMR][1000 genomes]
rs74138631	1.00[AMR][1000 genomes]
rs74138632	1.00[AMR][1000 genomes]
rs74138633	1.00[AMR][1000 genomes]
rs74138636	1.00[AMR][1000 genomes]
rs74138700	1.00[AMR][1000 genomes]
rs74140507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141106	1.00[AMR][1000 genomes]
rs7511916	1.00[AMR][1000 genomes]
rs7523527	1.00[AMR][1000 genomes]
rs7551472	1.00[AMR][1000 genomes]
rs7551969	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213030400-213034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:213030400-213034000	Active TSS	HSMM	muscle
3	chr1:213030400-213034600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:213030400-213035600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:213030600-213034000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:213030600-213034000	Active TSS	GM12878-XiMat	blood
7	chr1:213030600-213034400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:213030600-213035000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:213030800-213034200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:213030800-213035200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:213032000-213034000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:213032000-213034000	Flanking Active TSS	Dnd41	blood
13	chr1:213032200-213034000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:213032200-213034200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:213032400-213034600	Enhancers	Spleen	Spleen
16	chr1:213032600-213034000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:213032600-213034000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:213032600-213034000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:213032600-213034200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:213032600-213034200	Active TSS	Primary T cells from cord blood	blood
21	chr1:213032600-213034200	Weak transcription	Lung	lung
22	chr1:213032600-213034400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:213032600-213034400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:213032600-213034600	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:213032600-213034600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:213032600-213034600	Enhancers	Fetal Heart	heart
27	chr1:213032600-213034600	Enhancers	Left Ventricle	heart
28	chr1:213032600-213034600	Enhancers	Pancreas	Pancrea
29	chr1:213032600-213034600	Active TSS	NHLF	lung
30	chr1:213032600-213037000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:213032600-213046400	Weak transcription	Ovary	ovary
32	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
33	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
34	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
35	chr1:213032800-213034000	Enhancers	Primary B cells from cord blood	blood
36	chr1:213032800-213034000	Enhancers	Brain Substantia Nigra	brain
37	chr1:213032800-213034000	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:213032800-213034200	Active TSS	Fetal Intestine Small	intestine
39	chr1:213032800-213034200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:213032800-213034400	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:213032800-213034400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:213032800-213034400	Enhancers	Colon Smooth Muscle	Colon
43	chr1:213032800-213034600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:213032800-213034600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:213032800-213034600	Enhancers	Right Ventricle	heart
46	chr1:213032800-213034600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:213032800-213036200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:213032800-213036400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum

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