Variant report

Variant	rs230510
Chromosome Location	chr4:103476166-103476167
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:103476126-103476315	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103474531..103476175-chr4:103477255..103478902,2	MCF-7	breast:
2	chr4:103420331..103423503-chr4:103475320..103478755,3	MCF-7	breast:

Variant related genes	Relation type
NFKB1	TF binding region
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1054029	0.82[JPT][hapmap]
rs1585214	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1598856	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17033015	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs179195	0.81[JPT][hapmap]
rs227361	0.81[JPT][hapmap]
rs228614	0.81[JPT][hapmap]
rs228617	0.81[JPT][hapmap]
rs228619	0.82[JPT][hapmap]
rs230530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs3774932	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3774968	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap]
rs434644	0.86[JPT][hapmap]
rs93059	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103440000-103484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:103440200-103478600	Weak transcription	Right Ventricle	heart
3	chr4:103440200-103488200	Weak transcription	Gastric	stomach
4	chr4:103441400-103482000	Weak transcription	Spleen	Spleen
5	chr4:103443200-103496000	Weak transcription	A549	lung
6	chr4:103445000-103496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:103461200-103487800	Weak transcription	Colonic Mucosa	Colon
8	chr4:103461200-103490400	Weak transcription	Dnd41	blood
9	chr4:103461600-103485400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:103461600-103496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:103463200-103481800	Weak transcription	Fetal Thymus	thymus
12	chr4:103464600-103488200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:103466600-103481200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:103466800-103498600	Weak transcription	Placenta	Placenta
15	chr4:103467000-103495600	Weak transcription	HepG2	liver
16	chr4:103467200-103485400	Weak transcription	HMEC	breast
17	chr4:103468800-103490400	Weak transcription	Stomach Mucosa	stomach
18	chr4:103469600-103498000	Weak transcription	Esophagus	oesophagus
19	chr4:103469800-103481200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:103470000-103480800	Weak transcription	Lung	lung
21	chr4:103470000-103482600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:103470000-103483000	Weak transcription	Pancreas	Pancrea
23	chr4:103470000-103485400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:103470000-103485400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:103470000-103485400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:103470000-103498000	Weak transcription	Fetal Stomach	stomach
27	chr4:103470200-103478600	Weak transcription	Left Ventricle	heart
28	chr4:103470400-103482000	Weak transcription	Ovary	ovary
29	chr4:103470800-103484000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:103472600-103480600	Weak transcription	Right Atrium	heart
31	chr4:103473000-103476200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:103473200-103476200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:103473200-103476200	Enhancers	Colon Smooth Muscle	Colon
34	chr4:103473200-103476600	Enhancers	HSMMtube	muscle
35	chr4:103473200-103478200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:103473400-103481000	Weak transcription	Liver	Liver
37	chr4:103473400-103481000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:103473400-103481600	Weak transcription	Fetal Intestine Large	intestine
39	chr4:103473400-103482000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
41	chr4:103473600-103476200	Enhancers	NH-A	brain
42	chr4:103473600-103481600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:103473600-103481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:103473600-103482400	Weak transcription	Psoas Muscle	Psoas
45	chr4:103473600-103488200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:103473600-103498000	Weak transcription	Aorta	Aorta
47	chr4:103474000-103476200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:103474000-103481400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:103474200-103476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:103474200-103478600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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