Variant report

Variant	rs41264707
Chromosome Location	chr4:7811710-7811711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7808655..7810334-chr4:7810904..7813896,2	MCF-7	breast:
2	chr16:89626684..89629192-chr4:7810790..7812508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200084	Chromatin interaction
ENSG00000167526	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12512881	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074746	0.94[ASN][1000 genomes]
rs55851047	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56244096	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56264326	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61166235	0.97[EUR][1000 genomes]
rs61562759	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210848	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	8 gene(s)	inside rSNPs	diseases
5	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
3	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:7802200-7819800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7802400-7812400	Weak transcription	Spleen	Spleen
8	chr4:7803000-7812400	Weak transcription	Colonic Mucosa	Colon
9	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:7805200-7822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:7805600-7816400	Genic enhancers	Fetal Stomach	stomach
12	chr4:7806000-7814000	Enhancers	Adipose Nuclei	Adipose
13	chr4:7806200-7819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:7806400-7824600	Weak transcription	Fetal Thymus	thymus
15	chr4:7807800-7817800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:7808000-7823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:7808600-7812000	ZNF genes & repeats	NHEK	skin
18	chr4:7808600-7814000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:7808800-7812600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:7808800-7818400	Weak transcription	Psoas Muscle	Psoas
22	chr4:7809200-7811800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:7809200-7812200	Genic enhancers	Fetal Lung	lung
24	chr4:7809200-7812800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:7809200-7813400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr4:7809200-7816600	Weak transcription	Fetal Brain Male	brain
27	chr4:7809400-7812000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:7809400-7813200	Strong transcription	Fetal Brain Female	brain
29	chr4:7809400-7814800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:7809400-7814800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr4:7809400-7815200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7809600-7811800	Weak transcription	Pancreas	Pancrea
33	chr4:7809600-7812000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:7809600-7812200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:7809600-7812600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:7809600-7812600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:7809600-7812800	Strong transcription	NHDF-Ad	bronchial
38	chr4:7809600-7813200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:7809600-7814000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:7809600-7815600	Weak transcription	Brain Anterior Caudate	brain
41	chr4:7809600-7819000	Genic enhancers	A549	lung
42	chr4:7809600-7822400	Weak transcription	Brain Substantia Nigra	brain
43	chr4:7809600-7823000	Weak transcription	Brain Angular Gyrus	brain
44	chr4:7809600-7828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:7809800-7811800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:7809800-7811800	Strong transcription	Colon Smooth Muscle	Colon
47	chr4:7809800-7812000	Weak transcription	Lung	lung
48	chr4:7809800-7812000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:7809800-7812200	Strong transcription	Fetal Intestine Small	intestine
50	chr4:7809800-7812600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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