Variant report

Variant	rs1893714
Chromosome Location	chr4:99510279-99510280
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	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10004753	0.84[JPT][hapmap]
rs10005781	0.84[JPT][hapmap]
rs11943162	0.93[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13116201	0.85[JPT][hapmap]
rs1358548	0.81[AMR][1000 genomes]
rs1534555	0.82[JPT][hapmap]
rs1573478	0.87[JPT][hapmap]
rs2866016	0.82[JPT][hapmap]
rs4699348	0.81[JPT][hapmap]
rs4699349	0.83[JPT][hapmap]
rs4699353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699354	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6532751	0.82[JPT][hapmap]
rs7678323	0.83[JPT][hapmap]

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	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
2	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
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:99507600-99510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:99508200-99510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:99508200-99513600	Weak transcription	NHEK	skin
6	chr4:99508400-99510400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:99508400-99510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:99508400-99511200	Weak transcription	Fetal Lung	lung
9	chr4:99508600-99512000	Weak transcription	Ovary	ovary
10	chr4:99508600-99512800	Weak transcription	Fetal Heart	heart
11	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:99509400-99510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:99509400-99520600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:99509600-99510400	Enhancers	Brain Angular Gyrus	brain
15	chr4:99509600-99510400	Enhancers	Brain Anterior Caudate	brain
16	chr4:99509600-99510400	Enhancers	Brain Substantia Nigra	brain
17	chr4:99509600-99510800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:99509600-99511000	Enhancers	Brain Germinal Matrix	brain
19	chr4:99509600-99511000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:99509600-99511200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:99509600-99520200	Weak transcription	NH-A	brain
22	chr4:99509600-99522200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:99509800-99510800	Enhancers	HMEC	breast
24	chr4:99509800-99511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:99509800-99511200	Weak transcription	NHDF-Ad	bronchial
26	chr4:99509800-99511400	Enhancers	Fetal Brain Female	brain
27	chr4:99509800-99512000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:99510000-99510400	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:99510000-99510600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:99510000-99511000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:99510000-99511000	Enhancers	Fetal Brain Male	brain
32	chr4:99510200-99510400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:99510200-99510400	Enhancers	HSMM	muscle
34	chr4:99510200-99510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:99510200-99510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:99510200-99511200	Enhancers	H9 Cell Line	embryonic stem cell

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