Variant report

Variant	rs11939693
Chromosome Location	chr4:147425920-147425921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11737121	1.00[YRI][hapmap]
rs11937099	1.00[AMR][1000 genomes]
rs11947477	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7674642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3367272	chr4:147425754-147426156	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403000-147436200	Weak transcription	Lung	lung
2	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
4	chr4:147405400-147436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:147405800-147428800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:147406400-147435200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
10	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:147408200-147429600	Weak transcription	Psoas Muscle	Psoas
12	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
14	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
15	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
16	chr4:147410400-147436000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:147410800-147432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:147410800-147432600	Weak transcription	HUVEC	blood vessel
21	chr4:147410800-147436000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:147412400-147435800	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:147412600-147428800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
27	chr4:147412800-147435800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
29	chr4:147416000-147442000	Weak transcription	Gastric	stomach
30	chr4:147416600-147435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:147416600-147440600	Weak transcription	NH-A	brain
32	chr4:147416800-147432400	Weak transcription	K562	blood
33	chr4:147416800-147432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:147416800-147434400	Weak transcription	HSMMtube	muscle
35	chr4:147416800-147439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:147417000-147435800	Weak transcription	Osteobl	bone
37	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
38	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:147417400-147440600	Weak transcription	HMEC	breast
40	chr4:147417600-147439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:147417600-147440600	Weak transcription	NHLF	lung
42	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
43	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
45	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
48	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
49	chr4:147421000-147426000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon

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