Variant report

Variant	rs3735641
Chromosome Location	chr7:127229347-127229348
allele	C/T
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	RCOR1	chr7:127227637-127229436	IMR90	lung:	n/a	n/a
2	HEY1	chr7:127228036-127229497	K562	blood:	n/a	chr7:127229239-127229254 chr7:127228187-127228202 chr7:127229248-127229263 chr7:127228220-127228235
3	POLR2A	chr7:127229151-127229413	GM12878	blood:	n/a	n/a
4	CTCF	chr7:127228212-127229397	K562	blood:	n/a	chr7:127229014-127229027
5	RAD21	chr7:127228755-127229359	MCF-7	breast:	n/a	chr7:127229016-127229025
6	POLR2A	chr7:127227970-127229711	K562	blood:	n/a	n/a
7	SMARCB1	chr7:127227767-127229392	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:127228595-127229530	HCT-116	colon:	n/a	chr7:127229014-127229027
9	POLR2A	chr7:127228127-127229382	Hela-S3	cervix:	n/a	n/a
10	SMARCC1	chr7:127227896-127229396	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr7:127228808-127229377	MCF-7	breast:	n/a	chr7:127229016-127229025
12	CTCF	chr7:127228719-127229353	MCF-7	breast:	n/a	chr7:127229014-127229027
13	MAZ	chr7:127228040-127229424	IMR90	lung:	n/a	n/a
14	POLR2A	chr7:127227868-127229383	PFSK-1	brain:	n/a	n/a
15	EGR1	chr7:127227845-127229463	HCT-116	colon:	n/a	n/a
16	ZNF263	chr7:127228451-127229398	HEK293-T-REx	kidney:	n/a	n/a
17	ELF1	chr7:127227921-127229484	GM12878	blood:	n/a	chr7:127228241-127228253
18	SMC3	chr7:127227447-127229528	SK-N-SH	brain:	n/a	chr7:127229017-127229027 chr7:127228184-127228194
19	CTCF	chr7:127227682-127229461	A549	lung:	n/a	chr7:127229014-127229027
20	CTCF	chr7:127228673-127229394	HCT-116	colon:	n/a	chr7:127229014-127229027
21	POLR2A	chr7:127227790-127229352	PBDE	blood:	n/a	n/a
22	POLR2A	chr7:127229323-127229524	HepG2	liver:	n/a	n/a
23	RUNX3	chr7:127228758-127229377	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:127228097-127229713	K562	blood:	n/a	n/a
25	HCFC1	chr7:127227820-127229741	Hela-S3	cervix:	n/a	n/a
26	MTA3	chr7:127228397-127229380	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:127227689-127229609	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr7:127227863-127229484	H1-neurons	neurons:	n/a	chr7:127228305-127228318 chr7:127228301-127228321
29	MAX	chr7:127228037-127229456	A549	lung:	n/a	n/a
30	USF2	chr7:127228889-127229395	H1-hESC	embryonic stem cell:	n/a	chr7:127229251-127229267
31	RAD21	chr7:127228790-127229368	H1-hESC	embryonic stem cell:	n/a	chr7:127229016-127229025
32	CCNT2	chr7:127228088-127229381	K562	blood:	n/a	n/a
33	SIN3A	chr7:127228004-127229597	H1-hESC	embryonic stem cell:	n/a	chr7:127228308-127228321
34	MXI1	chr7:127227510-127229573	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr7:127228841-127229369	ECC-1	luminal epithelium:	n/a	chr7:127229016-127229025
36	CREB1	chr7:127227811-127229372	K562	blood:	n/a	n/a
37	POLR2A	chr7:127228109-127229394	IMR90	lung:	n/a	n/a
38	NR2F2	chr7:127228025-127229471	K562	blood:	n/a	n/a
39	CTCF	chr7:127228816-127229369	MCF-7	breast:	n/a	chr7:127229014-127229027
40	EBF1	chr7:127228973-127229799	GM12878	blood:	n/a	chr7:127229080-127229091
41	POLR2A	chr7:127228494-127229850	K562	blood:	n/a	n/a
42	RAD21	chr7:127227795-127229990	SK-N-SH	brain:	n/a	chr7:127229016-127229025 chr7:127228313-127228327
43	RAD21	chr7:127228818-127229391	SK-N-SH_RA	brain:	n/a	chr7:127229016-127229025
44	YY1	chr7:127228857-127229481	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr7:127227796-127229651	SK-N-SH	brain:	n/a	chr7:127229014-127229027
46	RAD21	chr7:127228824-127229383	A549	lung:	n/a	chr7:127229016-127229025

No.	Distal block	Cell Line	Cell type
1	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:
2	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
3	chr7:127228140..127230167-chr7:127331408..127333962,2	K562	blood:
4	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
5	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
6	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
7	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
8	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
9	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:

Variant related genes	Relation type
GCC1	TF binding region
FSCN3	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12536382	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1419428	0.87[EUR][1000 genomes]
rs34029720	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62483173	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806212	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127227600-127229400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:127227800-127229400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:127227800-127229600	Active TSS	Fetal Brain Female	brain
4	chr7:127227800-127229600	Active TSS	Fetal Kidney	kidney
5	chr7:127227800-127229600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:127227800-127229800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr7:127227800-127229800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr7:127228000-127229400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:127228000-127229400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:127228000-127229400	Active TSS	Small Intestine	intestine
11	chr7:127228000-127229600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:127228000-127229600	Active TSS	Psoas Muscle	Psoas
13	chr7:127228000-127229600	Active TSS	NHDF-Ad	bronchial
14	chr7:127228000-127229800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:127228000-127229800	Active TSS	HSMM	muscle
16	chr7:127228200-127229400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:127228200-127229400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:127228200-127229400	Active TSS	HMEC	breast
19	chr7:127228200-127229600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:127228200-127229600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:127228200-127229600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:127228200-127229600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr7:127228200-127229600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:127228200-127229600	Active TSS	Pancreas	Pancrea
25	chr7:127228200-127230000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:127228200-127230000	Active TSS	NHLF	lung
27	chr7:127228600-127229800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:127228800-127229400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:127228800-127229400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr7:127228800-127229400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:127228800-127229400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:127228800-127229400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:127228800-127229600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:127228800-127229600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr7:127228800-127229600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:127228800-127229600	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr7:127228800-127229800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr7:127228800-127229800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:127228800-127229800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr7:127228800-127229800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:127228800-127230000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:127228800-127230200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:127228800-127230200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:127228800-127230400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:127229000-127229400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:127229000-127229400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:127229000-127229400	Flanking Active TSS	Liver	Liver
48	chr7:127229000-127229400	Flanking Active TSS	Esophagus	oesophagus
49	chr7:127229000-127229400	Flanking Active TSS	Fetal Brain Male	brain
50	chr7:127229000-127229400	Flanking Active TSS	Fetal Thymus	thymus

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