Variant report

Variant	rs7934598
Chromosome Location	chr11:105958127-105958128
allele	C/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	CTCF	chr11:105958078-105959116	SK-N-SH	brain:	n/a	n/a
2	IRF1	chr11:105958090-105958309	K562	blood:	n/a	chr11:105958132-105958146 chr11:105958135-105958152 chr11:105958134-105958148 chr11:105958134-105958147 chr11:105958137-105958148 chr11:105958133-105958147 chr11:105958134-105958147 chr11:105958136-105958147 chr11:105958234-105958243 chr11:105958136-105958146 chr11:105958134-105958147

No.	Distal block	Cell Line	Cell type
1	chr11:105947111..105951134-chr11:105957312..105961780,4	MCF-7	breast:
2	chr11:105957718..105960222-chr11:105960868..105964221,4	K562	blood:
3	chr11:105947180..105950482-chr11:105957970..105961009,3	K562	blood:

Variant related genes	Relation type
AASDHPPT	TF binding region
ENSG00000182359	Chromatin interaction
ENSG00000149313	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10750741	1.00[ASN][1000 genomes]
rs17104715	1.00[CHB][hapmap]
rs17105297	1.00[ASN][1000 genomes]
rs1939797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1939804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1939814	1.00[ASN][1000 genomes]
rs1939815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1940762	1.00[ASN][1000 genomes]
rs1940764	1.00[ASN][1000 genomes]
rs1940768	1.00[ASN][1000 genomes]
rs1940769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41516344	1.00[CHB][hapmap]
rs4456234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485075	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754142	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6591151	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7122457	1.00[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930928	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937624	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7946174	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:105949200-105969800	Weak transcription	Lung	lung
6	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
7	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
9	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:105951200-105962200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:105952000-105969400	Weak transcription	Colonic Mucosa	Colon
13	chr11:105952400-105958400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:105952400-105958400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:105953000-105961800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:105953200-105960400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:105953400-105962000	Weak transcription	Placenta	Placenta
18	chr11:105953400-105962200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:105953400-105962400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:105953400-105962400	Weak transcription	Ovary	ovary
21	chr11:105953400-105962400	Weak transcription	Right Ventricle	heart
22	chr11:105953400-105965600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:105953400-105970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:105953600-105958200	Weak transcription	Fetal Heart	heart
25	chr11:105953600-105969600	Weak transcription	Gastric	stomach
26	chr11:105954000-105958200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:105954000-105958400	Weak transcription	Fetal Brain Male	brain
28	chr11:105954000-105959600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:105954000-105961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:105954000-105962000	Weak transcription	HMEC	breast
31	chr11:105954000-105962400	Weak transcription	HSMMtube	muscle
32	chr11:105954000-105963000	Weak transcription	NHDF-Ad	bronchial
33	chr11:105954200-105959400	Weak transcription	NH-A	brain
34	chr11:105954200-105961800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:105954400-105961000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:105954400-105961600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:105954600-105958400	Weak transcription	HUVEC	blood vessel
38	chr11:105955000-105958200	Weak transcription	A549	lung
39	chr11:105955000-105959400	Weak transcription	NHEK	skin
40	chr11:105955400-105962400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:105956000-105970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:105956200-105958400	Genic enhancers	Fetal Lung	lung
43	chr11:105956200-105959200	Genic enhancers	Dnd41	blood
44	chr11:105956200-105959600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:105956200-105959800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:105956200-105960400	Strong transcription	HSMM	muscle
47	chr11:105956200-105962200	Weak transcription	Fetal Stomach	stomach
48	chr11:105956400-105958200	Genic enhancers	Primary T cells from cord blood	blood
49	chr11:105956400-105961400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:105956400-105961400	Weak transcription	Primary monocytes fromperipheralblood	blood

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