Variant report

Variant	rs4749997
Chromosome Location	chr10:6161781-6161782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6161419..6164207-chr10:6176225..6178113,3	MCF-7	breast:
2	chr10:6157094..6159629-chr10:6160136..6162344,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1073646	0.84[TSI][hapmap]
rs10905806	0.89[GIH][hapmap]
rs12268391	0.83[EUR][1000 genomes]
rs3930531	0.93[GIH][hapmap];0.89[JPT][hapmap]
rs4747880	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	40 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	chr10:6140000-6162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:6154400-6166400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:6155200-6162000	Weak transcription	Stomach Mucosa	stomach
4	chr10:6156800-6162600	Weak transcription	Esophagus	oesophagus
5	chr10:6156800-6162600	Weak transcription	Ovary	ovary
6	chr10:6157000-6162000	Weak transcription	Psoas Muscle	Psoas
7	chr10:6157000-6162200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:6157000-6162600	Weak transcription	Small Intestine	intestine
9	chr10:6157000-6164200	Weak transcription	HepG2	liver
10	chr10:6157000-6166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:6157000-6170800	Weak transcription	Gastric	stomach
12	chr10:6157200-6161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:6157600-6162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:6157600-6162600	Weak transcription	Aorta	Aorta
15	chr10:6157600-6162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:6157600-6162800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:6157600-6162800	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:6157600-6162800	Weak transcription	Fetal Stomach	stomach
19	chr10:6157600-6165400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:6157600-6165400	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:6157600-6166200	Weak transcription	Brain Angular Gyrus	brain
22	chr10:6157600-6166200	Weak transcription	Brain Substantia Nigra	brain
23	chr10:6157600-6166400	Weak transcription	Spleen	Spleen
24	chr10:6157600-6170400	Weak transcription	Lung	lung
25	chr10:6157600-6170400	Weak transcription	Thymus	Thymus
26	chr10:6157600-6171000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr10:6157600-6172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:6157800-6170800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr10:6158200-6162600	Weak transcription	Colonic Mucosa	Colon
30	chr10:6158200-6162800	Weak transcription	Fetal Lung	lung
31	chr10:6158200-6163400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:6158200-6166400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:6158200-6168800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:6158400-6162000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:6158400-6162600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:6158400-6162600	Weak transcription	NHLF	lung
37	chr10:6158400-6162800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:6158400-6169400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:6158600-6161800	Weak transcription	Fetal Intestine Large	intestine
40	chr10:6158600-6162800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:6158600-6166600	Weak transcription	HUVEC	blood vessel
42	chr10:6158600-6166600	Weak transcription	K562	blood
43	chr10:6158600-6168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:6158600-6170200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:6158600-6170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:6158800-6162800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:6158800-6165400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr10:6159000-6162000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr10:6159000-6170400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:6159000-6170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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