Variant report

Variant	rs603215
Chromosome Location	chr4:99214851-99214852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1214993	0.87[GIH][hapmap]
rs433146	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[ASN][1000 genomes]
rs526009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:99184200-99242200	Weak transcription	A549	lung
3	chr4:99185400-99239400	Weak transcription	NHEK	skin
4	chr4:99194000-99215400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:99205000-99215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:99206000-99218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
9	chr4:99206200-99215800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:99206200-99215800	Weak transcription	HMEC	breast
11	chr4:99206200-99218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:99206200-99218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:99206200-99232800	Weak transcription	Gastric	stomach
15	chr4:99206200-99234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:99206200-99239800	Weak transcription	Aorta	Aorta
17	chr4:99206800-99215400	Weak transcription	NHDF-Ad	bronchial
18	chr4:99206800-99216000	Weak transcription	HUVEC	blood vessel
19	chr4:99206800-99219000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:99206800-99223600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:99208800-99222800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:99210600-99218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:99210600-99219200	Weak transcription	Small Intestine	intestine
25	chr4:99210600-99220600	Weak transcription	Right Ventricle	heart
26	chr4:99210600-99222200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:99210600-99222600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:99210600-99223600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:99210800-99215800	Weak transcription	NH-A	brain
30	chr4:99210800-99222800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:99211200-99226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:99211400-99223400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:99211400-99226000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:99211600-99216000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:99211800-99222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:99212000-99216400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:99212000-99220000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:99212200-99218000	Weak transcription	NHLF	lung
39	chr4:99212400-99218000	Weak transcription	Primary T cells from cord blood	blood
40	chr4:99212400-99239800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
42	chr4:99212800-99215600	Weak transcription	Fetal Stomach	stomach
43	chr4:99212800-99221400	Weak transcription	Fetal Intestine Large	intestine
44	chr4:99213000-99217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:99213000-99221400	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:99213200-99215000	Weak transcription	Brain Angular Gyrus	brain
47	chr4:99213200-99222200	Weak transcription	Fetal Lung	lung
48	chr4:99213400-99218600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:99213400-99229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99213600-99221200	Weak transcription	Ovary	ovary

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