Variant report

Variant	rs11931033
Chromosome Location	chr4:85613628-85613629
allele	C/G
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	chr4:85613534-85613661	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85503764..85505727-chr4:85612684..85615116,2	K562	blood:

Variant related genes	Relation type
RN7SL552P	TF binding region
ENSG00000163624	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11724870	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11726635	1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs11728145	0.95[EUR][1000 genomes]
rs11730031	0.95[EUR][1000 genomes]
rs11730137	0.95[EUR][1000 genomes]
rs11940030	0.95[EUR][1000 genomes]
rs11947757	1.00[JPT][hapmap]
rs1463607	0.95[EUR][1000 genomes]
rs1473456	0.95[EUR][1000 genomes]
rs1484662	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs1601286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs16995917	0.95[EUR][1000 genomes]
rs17009212	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009218	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17009245	1.00[JPT][hapmap]
rs17009286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs1994227	0.95[EUR][1000 genomes]
rs2015631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2289594	0.97[ASN][1000 genomes]
rs3747681	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7681742	0.91[EUR][1000 genomes]
rs894533	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85587800-85648400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:85596200-85634600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:85598600-85632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:85602600-85630600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:85603400-85618600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:85603400-85631600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:85603600-85618400	Strong transcription	Liver	Liver
8	chr4:85603800-85643800	Weak transcription	Stomach Mucosa	stomach
9	chr4:85604400-85618400	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:85604400-85637600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:85604400-85674800	Weak transcription	Small Intestine	intestine
12	chr4:85604800-85631600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:85605000-85637000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:85605200-85616000	Weak transcription	Colonic Mucosa	Colon
15	chr4:85605200-85616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:85605400-85615400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:85605800-85616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:85606600-85616600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:85607000-85615600	Weak transcription	Fetal Brain Male	brain
20	chr4:85607000-85619200	Strong transcription	Fetal Kidney	kidney
21	chr4:85607800-85636000	Strong transcription	Fetal Lung	lung
22	chr4:85608600-85618000	Strong transcription	Brain Germinal Matrix	brain
23	chr4:85609000-85618600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:85609200-85627400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:85609600-85614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:85609800-85623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:85610200-85616000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:85610600-85618400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:85611000-85617200	Strong transcription	Fetal Intestine Large	intestine
30	chr4:85611400-85614200	Strong transcription	Left Ventricle	heart
31	chr4:85611400-85614600	Genic enhancers	HUVEC	blood vessel
32	chr4:85611400-85618600	Strong transcription	Fetal Muscle Leg	muscle
33	chr4:85611600-85613800	Strong transcription	Fetal Intestine Small	intestine
34	chr4:85611600-85614000	Strong transcription	Fetal Stomach	stomach
35	chr4:85611600-85614400	Strong transcription	HepG2	liver
36	chr4:85611600-85617000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:85611600-85617200	Strong transcription	Brain Substantia Nigra	brain
38	chr4:85611600-85617400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:85611600-85617400	Strong transcription	Right Ventricle	heart
40	chr4:85611600-85636600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:85611800-85618400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr4:85611800-85630000	Strong transcription	Fetal Brain Female	brain
43	chr4:85612200-85616000	Weak transcription	Gastric	stomach
44	chr4:85612400-85614400	Enhancers	HSMMtube	muscle
45	chr4:85612400-85614600	Genic enhancers	HSMM	muscle
46	chr4:85612400-85616000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:85612400-85616200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:85612400-85628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:85612600-85614200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:85612600-85614800	Enhancers	HMEC	breast

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