Variant report

Variant	rs774801
Chromosome Location	chr3:137930345-137930346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:137906524..137908322-chr3:137929197..137932094,2	MCF-7	breast:
2	chr3:137927759..137930683-chr3:137967552..137969779,2	K562	blood:
3	chr3:137916530..137924302-chr3:137926025..137931716,11	K562	blood:
4	chr3:137929634..137931248-chr3:137931754..137934172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114098	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13065895	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170310	0.82[ASN][1000 genomes]
rs329387	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3773766	0.81[CEU][hapmap];0.82[YRI][hapmap]
rs4678405	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs6778511	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.92[EUR][1000 genomes]
rs7612622	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7631734	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs774800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774802	0.83[ASN][1000 genomes]
rs939453	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap]
rs9822008	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9842193	0.88[EUR][1000 genomes]
rs9853581	0.91[EUR][1000 genomes]
rs9862439	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
4	nsv998106	chr3:137851198-137934610	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv877536	chr3:137870523-137970907	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137907600-137941600	Weak transcription	Lung	lung
2	chr3:137907600-137942200	Weak transcription	Pancreas	Pancrea
3	chr3:137907600-137942400	Weak transcription	Spleen	Spleen
4	chr3:137907800-137941000	Weak transcription	Fetal Kidney	kidney
5	chr3:137908000-137940400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:137908200-137940600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:137908400-137941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:137908400-137942200	Weak transcription	NHDF-Ad	bronchial
9	chr3:137908400-137942400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:137908400-137956200	Weak transcription	A549	lung
11	chr3:137908800-137931000	Weak transcription	HUVEC	blood vessel
12	chr3:137908800-137941800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:137908800-137942200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:137909000-137932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:137910600-137935800	Weak transcription	Dnd41	blood
16	chr3:137910600-137941600	Weak transcription	Hela-S3	cervix
17	chr3:137911000-137941000	Weak transcription	Placenta	Placenta
18	chr3:137911000-137942400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:137911800-137941600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:137912000-137941600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:137912400-137942400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:137914800-137940600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:137915000-137942000	Weak transcription	Fetal Brain Male	brain
24	chr3:137915200-137931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:137915400-137936400	Weak transcription	HMEC	breast
26	chr3:137915400-137941800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:137916000-137932000	Weak transcription	NHEK	skin
28	chr3:137916000-137941400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:137916200-137931400	Weak transcription	Fetal Stomach	stomach
30	chr3:137916200-137939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:137916400-137935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:137917000-137936000	Weak transcription	HepG2	liver
33	chr3:137918600-137936800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:137918600-137941800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:137919200-137964800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:137919600-137932800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:137921200-137936800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:137922600-137936000	Weak transcription	GM12878-XiMat	blood
39	chr3:137922600-137940400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:137922600-137941800	Weak transcription	Esophagus	oesophagus
41	chr3:137922600-137942200	Weak transcription	Stomach Mucosa	stomach
42	chr3:137922800-137938800	Weak transcription	Brain Anterior Caudate	brain
43	chr3:137922800-137941600	Weak transcription	Adipose Nuclei	Adipose
44	chr3:137922800-137941800	Weak transcription	Ovary	ovary
45	chr3:137922800-137942200	Weak transcription	HSMMtube	muscle
46	chr3:137923000-137933600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:137923000-137941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:137923000-137941600	Weak transcription	Thymus	Thymus
49	chr3:137923200-137941600	Weak transcription	Aorta	Aorta
50	chr3:137923200-137942200	Weak transcription	Right Ventricle	heart

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