Variant report

Variant	rs6781894
Chromosome Location	chr3:158366195-158366196
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	chr3:158362317..158363897-chr3:158363962..158367298,3	MCF-7	breast:
2	chr3:158361174..158366807-chr3:158367896..158374332,10	K562	blood:

Variant related genes	Relation type
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13316522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28838673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28892926	0.92[AFR][1000 genomes]
rs60378784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028942	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9810232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9815159	1.00[AMR][1000 genomes]
rs9828477	1.00[AMR][1000 genomes]
rs9830695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9833662	1.00[AMR][1000 genomes]
rs9846674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9860148	1.00[AMR][1000 genomes]
rs9864685	1.00[AMR][1000 genomes]
rs9867378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869644	chr3:158308783-158426343	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3399089	chr3:158356055-158410094	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158362800-158367600	Weak transcription	Spleen	Spleen
2	chr3:158362800-158369800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:158362800-158389600	Weak transcription	Gastric	stomach
4	chr3:158362800-158389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:158362800-158390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:158363000-158366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:158363000-158367800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:158363000-158369800	Weak transcription	Aorta	Aorta
9	chr3:158363000-158369800	Weak transcription	Lung	lung
10	chr3:158363000-158370400	Weak transcription	Pancreas	Pancrea
11	chr3:158363000-158376600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:158363000-158378200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:158363000-158379800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:158363000-158381800	Weak transcription	Esophagus	oesophagus
15	chr3:158363200-158370200	Weak transcription	Colonic Mucosa	Colon
16	chr3:158363200-158378600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:158363200-158389400	Weak transcription	Fetal Brain Male	brain
18	chr3:158363400-158367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:158363400-158367200	Weak transcription	Right Ventricle	heart
20	chr3:158363400-158367400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:158363400-158367600	Weak transcription	Stomach Mucosa	stomach
22	chr3:158363400-158369800	Weak transcription	Small Intestine	intestine
23	chr3:158363400-158370400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:158363400-158374200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:158363400-158376600	Weak transcription	Fetal Kidney	kidney
26	chr3:158363600-158366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:158363600-158367200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:158363600-158367600	Weak transcription	Fetal Stomach	stomach
29	chr3:158363600-158367600	Weak transcription	HSMMtube	muscle
30	chr3:158363600-158369200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:158363600-158369800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:158363600-158369800	Weak transcription	Fetal Intestine Small	intestine
33	chr3:158363600-158376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:158363600-158379000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:158363600-158389400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:158363800-158366600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:158363800-158367000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:158363800-158368200	Strong transcription	Placenta	Placenta
39	chr3:158363800-158369400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr3:158363800-158374800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:158363800-158375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:158363800-158375800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:158363800-158388200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:158363800-158388600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:158364000-158366600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:158364000-158366800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:158364000-158367200	Weak transcription	HepG2	liver
48	chr3:158364000-158367400	Weak transcription	Thymus	Thymus
49	chr3:158364000-158368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:158364000-158368400	Strong transcription	NHEK	skin

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