Variant report

Variant	rs9998576
Chromosome Location	chr4:76398865-76398866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76358069..76359586-chr4:76396767..76398904,2	K562	blood:
2	chr4:76398393..76400308-chr4:76403979..76406011,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10009558	0.88[CEU][hapmap]
rs10018377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs10020976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10026125	0.86[AMR][1000 genomes]
rs10032148	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs10518139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11944808	0.83[EUR][1000 genomes]
rs13103482	0.88[CEU][hapmap]
rs13134862	0.82[CEU][hapmap]
rs13137105	0.88[CEU][hapmap]
rs1841933	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126852	0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs2867917	0.89[CEU][hapmap]
rs28851837	0.82[EUR][1000 genomes]
rs28871288	0.88[AMR][1000 genomes]
rs35362134	0.88[AMR][1000 genomes]
rs35931543	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62318629	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62318632	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6835573	0.84[CEU][hapmap]
rs6838603	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6858804	0.83[EUR][1000 genomes]
rs7662152	0.89[CEU][hapmap]
rs7685936	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7699102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9307834	0.85[CEU][hapmap]
rs9994735	0.92[CEU][hapmap]

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	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9998576	RCHY1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76392000-76402400	Weak transcription	Liver	Liver
2	chr4:76392600-76434800	Weak transcription	Gastric	stomach
3	chr4:76392800-76403000	Weak transcription	Fetal Brain Female	brain
4	chr4:76394000-76406200	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:76394000-76406600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:76394600-76424600	Weak transcription	Right Ventricle	heart
7	chr4:76395000-76401200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:76395400-76402200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:76395400-76405200	Weak transcription	Fetal Heart	heart
10	chr4:76395600-76405800	Weak transcription	Brain Germinal Matrix	brain
11	chr4:76395800-76399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:76395800-76402200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:76395800-76402400	Weak transcription	Ovary	ovary
14	chr4:76395800-76406600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:76395800-76437000	Weak transcription	Aorta	Aorta
16	chr4:76395800-76437000	Weak transcription	Lung	lung
17	chr4:76395800-76437000	Weak transcription	Pancreas	Pancrea
18	chr4:76396200-76424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:76396200-76437000	Weak transcription	Esophagus	oesophagus
20	chr4:76396400-76402200	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:76396600-76403600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:76396800-76400200	Strong transcription	HSMM	muscle
23	chr4:76396800-76402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:76397000-76399200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:76397000-76400000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:76397000-76402000	Weak transcription	Adipose Nuclei	Adipose
27	chr4:76397000-76403200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:76397000-76403400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:76397000-76403600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:76397000-76405200	Weak transcription	NHEK	skin
31	chr4:76397200-76401400	Weak transcription	Placenta	Placenta
32	chr4:76397200-76402000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:76397200-76402200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:76397200-76402200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:76397200-76402200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:76397200-76403600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:76397200-76403800	Weak transcription	HUVEC	blood vessel
38	chr4:76397200-76405200	Weak transcription	Left Ventricle	heart
39	chr4:76397200-76414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:76397400-76399400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:76397400-76403000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:76397400-76403600	Weak transcription	NH-A	brain
43	chr4:76397400-76403800	Weak transcription	GM12878-XiMat	blood
44	chr4:76397600-76401400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:76397600-76402200	Weak transcription	Fetal Intestine Small	intestine
46	chr4:76397600-76402600	Weak transcription	Psoas Muscle	Psoas
47	chr4:76397800-76437000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:76398000-76402000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:76398000-76402200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:76398000-76403600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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