Variant report

Variant	rs7685956
Chromosome Location	chr4:175422196-175422197
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175420852..175423777-chr4:175440918..175443642,2	K562	blood:

Variant related genes	Relation type
ENSG00000164120	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11133040	0.80[ASN][1000 genomes]
rs11133042	0.95[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1816204	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2098948	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2555660	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2612656	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612694	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34991202	0.83[ASN][1000 genomes]
rs3846298	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3857075	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6419992	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835564	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6838650	0.80[ASN][1000 genomes]
rs7670400	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7691986	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7691993	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv881270	chr4:175413296-175425619	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7685956	HAND2	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175409400-175424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:175410000-175424600	Weak transcription	Fetal Stomach	stomach
4	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:175410800-175430800	Weak transcription	Gastric	stomach
7	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:175414400-175428200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:175415400-175424000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:175415600-175427600	Enhancers	Stomach Mucosa	stomach
12	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:175418600-175424000	Weak transcription	Hela-S3	cervix
14	chr4:175418600-175424400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:175418600-175424600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:175418600-175427000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:175418600-175427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:175418800-175427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:175418800-175435600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:175419400-175431000	Weak transcription	Colonic Mucosa	Colon
23	chr4:175419800-175423800	Weak transcription	Fetal Thymus	thymus
24	chr4:175420400-175426200	Weak transcription	Small Intestine	intestine
25	chr4:175420600-175422200	Weak transcription	Liver	Liver
26	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:175420800-175424000	Weak transcription	A549	lung
28	chr4:175421000-175426800	Weak transcription	Lung	lung
29	chr4:175421000-175428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:175421000-175428800	Weak transcription	Primary T cells from cord blood	blood
31	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:175421400-175424000	Weak transcription	Fetal Intestine Large	intestine
33	chr4:175421600-175424000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:175421600-175424000	Weak transcription	Placenta	Placenta
35	chr4:175421600-175424000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:175422000-175423400	Weak transcription	Fetal Intestine Small	intestine

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