Variant report

Variant	rs6831995
Chromosome Location	chr4:104017045-104017046
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	chr4:104015551..104018185-chr4:104019350..104021747,2	K562	blood:

Variant related genes	Relation type
ENSG00000164039	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17009213	1.00[EUR][1000 genomes]
rs17033437	1.00[EUR][1000 genomes]
rs2866639	1.00[EUR][1000 genomes]
rs34685953	1.00[EUR][1000 genomes]
rs55643410	1.00[AMR][1000 genomes]
rs6812632	1.00[EUR][1000 genomes]
rs6813792	1.00[EUR][1000 genomes]
rs6834354	1.00[EUR][1000 genomes]
rs6834690	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MKK][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6839962	1.00[EUR][1000 genomes]
rs6843807	1.00[EUR][1000 genomes]
rs6850183	1.00[EUR][1000 genomes]
rs6851455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6853449	1.00[EUR][1000 genomes]
rs72935555	1.00[EUR][1000 genomes]
rs72935593	1.00[EUR][1000 genomes]
rs72937427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7675793	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9307278	1.00[EUR][1000 genomes]
rs9684904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr4:103998200-104020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:103998400-104018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:103998600-104020200	Weak transcription	Fetal Brain Male	brain
4	chr4:103998800-104019600	Weak transcription	NHEK	skin
5	chr4:103999000-104020200	Weak transcription	Hela-S3	cervix
6	chr4:104007000-104017800	Weak transcription	Stomach Mucosa	stomach
7	chr4:104008000-104019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:104009000-104020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:104010200-104018000	Weak transcription	Colonic Mucosa	Colon
10	chr4:104010200-104019600	Weak transcription	Spleen	Spleen
11	chr4:104010600-104019200	Weak transcription	Esophagus	oesophagus
12	chr4:104011200-104019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:104011800-104018600	Weak transcription	Small Intestine	intestine
14	chr4:104012000-104018800	Weak transcription	HSMMtube	muscle
15	chr4:104012000-104019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:104012000-104019600	Weak transcription	HMEC	breast
17	chr4:104012200-104018600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:104012200-104019200	Weak transcription	Placenta	Placenta
19	chr4:104012200-104019200	Weak transcription	Psoas Muscle	Psoas
20	chr4:104012200-104019400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:104012200-104019400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:104012200-104019600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:104012200-104019800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:104012200-104019800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:104012400-104018000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:104012400-104018400	Weak transcription	Pancreas	Pancrea
27	chr4:104012400-104018600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:104012400-104018600	Weak transcription	Gastric	stomach
29	chr4:104012400-104018600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:104012400-104018800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:104012400-104018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:104012400-104018800	Weak transcription	Right Ventricle	heart
33	chr4:104012400-104018800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:104012400-104019200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:104012400-104019200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:104012400-104019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:104012400-104019200	Weak transcription	Lung	lung
38	chr4:104012400-104019400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:104012400-104019400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:104012400-104019400	Weak transcription	Aorta	Aorta
41	chr4:104012400-104019400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:104012400-104019600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:104012400-104019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:104012400-104019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:104012400-104019600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:104012400-104019800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:104012400-104019800	Weak transcription	Thymus	Thymus
48	chr4:104012400-104019800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:104012400-104020000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:104012400-104020200	Weak transcription	H9 Cell Line	embryonic stem cell

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