Variant report

Variant	rs17191936
Chromosome Location	chr4:99447987-99447988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99446603..99448154-chr4:99449799..99451915,2	K562	blood:
2	chr4:99441293..99445376-chr4:99447706..99451023,3	K562	blood:
3	chr4:99445632..99448103-chr4:99449993..99451915,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10004753	0.92[CEU][hapmap]
rs10005781	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs13116201	0.92[CEU][hapmap]
rs13134231	0.81[CHB][hapmap]
rs13137132	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs17192060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2091547	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699650	0.80[CHB][hapmap]
rs6532742	0.81[CHB][hapmap]
rs6812597	0.83[ASN][1000 genomes]
rs6831643	0.80[CHB][hapmap]
rs7668981	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7695093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
2	chr4:99440400-99458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:99442200-99450600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:99444400-99448800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:99444600-99450200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:99444800-99448600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:99445200-99451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:99445200-99461800	Weak transcription	HMEC	breast
9	chr4:99445400-99448800	Weak transcription	HSMM	muscle
10	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:99445600-99448000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:99445600-99449800	Weak transcription	NHLF	lung
13	chr4:99445600-99450000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:99445600-99450200	Weak transcription	Gastric	stomach
15	chr4:99445800-99448800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:99445800-99450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:99446000-99448200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:99446000-99449000	Weak transcription	NHEK	skin
19	chr4:99446000-99449800	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
21	chr4:99446200-99448800	Enhancers	Ovary	ovary
22	chr4:99446600-99448600	Weak transcription	Osteobl	bone
23	chr4:99446600-99448800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:99446600-99448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:99446600-99450200	Weak transcription	NH-A	brain
26	chr4:99446800-99448800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:99446800-99449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:99446800-99451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:99446800-99457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:99446800-99461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:99447400-99448200	Enhancers	Fetal Brain Male	brain
32	chr4:99447400-99448800	Weak transcription	Brain Anterior Caudate	brain
33	chr4:99447400-99449400	Enhancers	Fetal Brain Female	brain
34	chr4:99447400-99450200	Enhancers	Brain Hippocampus Middle	brain
35	chr4:99447800-99448000	Enhancers	NHDF-Ad	bronchial
36	chr4:99447800-99448200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:99447800-99448400	Weak transcription	Brain Angular Gyrus	brain
38	chr4:99447800-99450400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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