Variant report

Variant	rs7689116
Chromosome Location	chr4:99443068-99443069
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	chr4:99441293..99445376-chr4:99447706..99451023,3	K562	blood:
2	chr4:99413602..99415848-chr4:99442433..99444375,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10004753	0.82[AFR][1000 genomes]
rs10516433	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945713	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116201	0.80[AFR][1000 genomes]
rs1554849	0.81[ASN][1000 genomes]
rs17498778	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499015	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564872	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17564998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699645	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56221164	1.00[ASN][1000 genomes]
rs59150136	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60026821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60947018	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6532740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532746	0.90[ASN][1000 genomes]
rs6817773	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840239	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840610	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846101	0.90[ASN][1000 genomes]
rs6853079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676155	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9761395	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
2	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
4	chr4:99436600-99443600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
6	chr4:99437200-99443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:99438400-99443200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:99438800-99443400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
10	chr4:99439000-99443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:99439200-99443200	Enhancers	NH-A	brain
12	chr4:99439400-99443200	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:99439600-99445800	Enhancers	Ovary	ovary
14	chr4:99439800-99443800	Weak transcription	Fetal Brain Female	brain
15	chr4:99440200-99443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:99440400-99443400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:99440400-99443600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:99440400-99443800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:99440400-99458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:99440800-99443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:99440800-99443200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:99440800-99443800	Weak transcription	Primary B cells from cord blood	blood
23	chr4:99441000-99443200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:99441200-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:99441200-99446400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:99441600-99443800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:99441800-99446400	Weak transcription	Spleen	Spleen
28	chr4:99442200-99443600	Enhancers	NHDF-Ad	bronchial
29	chr4:99442200-99446000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:99442200-99446000	Enhancers	NHEK	skin
31	chr4:99442200-99450600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:99442400-99443400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:99442400-99443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:99442400-99444600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:99442400-99444800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:99442400-99445800	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:99442400-99446600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:99442400-99446800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:99442600-99443400	Enhancers	Fetal Muscle Leg	muscle
40	chr4:99442600-99443400	Enhancers	Fetal Thymus	thymus
41	chr4:99442600-99443400	Enhancers	Right Ventricle	heart
42	chr4:99442600-99443600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:99442600-99443600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:99442600-99443600	Enhancers	HUVEC	blood vessel
45	chr4:99442600-99443800	Enhancers	Dnd41	blood
46	chr4:99442600-99444000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr4:99442600-99444000	Enhancers	Osteobl	bone
48	chr4:99442600-99444400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:99442600-99444800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:99442600-99445200	Enhancers	HMEC	breast

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