Variant report

Variant	rs4668723
Chromosome Location	chr2:11509634-11509635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:11509514-11509761	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11483340..11487694-chr2:11505828..11510815,5	K562	blood:
2	chr2:11484922..11486828-chr2:11507256..11509884,2	K562	blood:
3	chr2:11483150..11486998-chr2:11509500..11514812,6	MCF-7	breast:
4	chr2:11483074..11486945-chr2:11508769..11511659,4	MCF-7	breast:
5	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230952	TF binding region
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10170598	0.87[ASN][1000 genomes]
rs10170791	0.84[ASN][1000 genomes]
rs10195908	0.87[ASN][1000 genomes]
rs10202323	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10929734	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12692438	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12692439	0.88[ASN][1000 genomes]
rs12692440	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12692441	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12993210	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs13024110	0.94[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs35029584	0.88[ASN][1000 genomes]
rs35352177	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4280434	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4533449	0.88[ASN][1000 genomes]
rs4641909	0.87[ASN][1000 genomes]
rs4668722	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6432189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6708718	0.88[ASN][1000 genomes]
rs6708945	0.87[ASN][1000 genomes]
rs6711409	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711414	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716724	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6719739	0.87[ASN][1000 genomes]
rs6721881	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6756145	0.85[ASN][1000 genomes]
rs7420679	0.87[ASN][1000 genomes]
rs7595700	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4668723	IAH1	cis	cerebellum	SCAN
rs4668723	ROCK2	cis	cerebellum	SCAN
rs4668723	ROCK2	cis	parietal	SCAN
rs4668723	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
2	chr2:11505600-11511600	Enhancers	Fetal Intestine Small	intestine
3	chr2:11505800-11511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:11506000-11511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11506000-11514600	Weak transcription	K562	blood
6	chr2:11506800-11511000	Enhancers	HepG2	liver
7	chr2:11507200-11511200	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
9	chr2:11508000-11509800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11508200-11510600	Weak transcription	Pancreas	Pancrea
11	chr2:11508400-11509800	Enhancers	Fetal Brain Male	brain
12	chr2:11508400-11510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:11508400-11510600	Weak transcription	Hela-S3	cervix
14	chr2:11508400-11513400	Weak transcription	HSMMtube	muscle
15	chr2:11508400-11514800	Weak transcription	Small Intestine	intestine
16	chr2:11508600-11509800	Weak transcription	A549	lung
17	chr2:11508600-11513200	Weak transcription	NH-A	brain
18	chr2:11508600-11513600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:11508600-11514000	Enhancers	Psoas Muscle	Psoas
20	chr2:11508800-11510600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:11508800-11510800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:11508800-11510800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:11508800-11510800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:11508800-11511000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:11508800-11511000	Weak transcription	Fetal Lung	lung
26	chr2:11508800-11511000	Weak transcription	NHLF	lung
27	chr2:11508800-11513200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:11508800-11513400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:11508800-11513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11508800-11513600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:11508800-11513600	Weak transcription	Osteobl	bone
32	chr2:11508800-11514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:11508800-11514600	Weak transcription	Brain Germinal Matrix	brain
34	chr2:11508800-11514600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:11508800-11514600	Weak transcription	Right Atrium	heart
36	chr2:11508800-11515000	Weak transcription	Aorta	Aorta
37	chr2:11509000-11510600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:11509000-11510600	Weak transcription	NHDF-Ad	bronchial
39	chr2:11509000-11510800	Enhancers	Lung	lung
40	chr2:11509000-11513400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:11509000-11514400	Weak transcription	Brain Anterior Caudate	brain
42	chr2:11509000-11514400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:11509000-11514400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:11509200-11510600	Weak transcription	Liver	Liver
45	chr2:11509200-11510800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:11509200-11513200	Weak transcription	Left Ventricle	heart
47	chr2:11509200-11514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:11509200-11514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:11509400-11509800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:11509400-11509800	Enhancers	Spleen	Spleen

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