Variant report

Variant	rs35437876
Chromosome Location	chr11:71948152-71948153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:71948107-71948480	K562	blood:	n/a	n/a
2	POLR2A	chr11:71947892-71948409	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:71948148-71948182	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:71944622-71955431	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:71948080-71948230	K562	blood:	n/a	n/a
6	CTCF	chr11:71948120-71948270	BE2_C	brain:	n/a	n/a
7	CTCF	chr11:71948080-71948230	AG04449	skin:	n/a	n/a
8	CTCF	chr11:71948080-71948230	BE2_C	brain:	n/a	n/a
9	CTCF	chr11:71948100-71948250	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr11:71948040-71948190	HRE	kidney:	n/a	n/a
11	CTCF	chr11:71948060-71948210	SAEC	small airway:	n/a	n/a
12	POLR2A	chr11:71948026-71948312	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:71948060-71948210	AG04450	lung:	n/a	n/a
14	YY1	chr11:71947724-71950152	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr11:71947602-71950032	SK-N-SH_RA	brain:	n/a	chr11:71949231-71949244
16	CTCF	chr11:71948060-71948662	K562	blood:	n/a	n/a
17	POLR2A	chr11:71945957-71952577	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:71948137-71948164	ProgFib	skin:	n/a	n/a
19	CTCF	chr11:71948020-71948170	BJ	skin:	n/a	n/a
20	POLR2A	chr11:71947570-71948273	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:71947949-71951292	K562	blood:	n/a	n/a
22	CTCF	chr11:71947572-71951332	SK-N-SH	brain:	n/a	chr11:71949028-71949036
23	CTCF	chr11:71948080-71948230	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr11:71948005-71948449	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr11:71948140-71948290	HBMEC	blood vessel:	n/a	n/a
26	RAD21	chr11:71948131-71948613	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:71948049-71952245	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:71948020-71948170	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr11:71948080-71948230	NB4	blood:	n/a	n/a
30	POLR2A	chr11:71947841-71948594	K562	blood:	n/a	n/a
31	CTCF	chr11:71948130-71948179	GM20000	blood:	n/a	n/a
32	POLR2A	chr11:71948110-71952171	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
2	chr11:71734617..71736774-chr11:71947539..71949807,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12807696	1.00[AFR][1000 genomes]
rs34575766	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71477715	1.00[AFR][1000 genomes]
rs71477720	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv555404	chr11:71944242-71949952	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv555405	chr11:71944667-71952345	Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
5	chr11:71937400-71949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:71937400-71950000	Strong transcription	NHLF	lung
7	chr11:71937600-71949000	Weak transcription	Right Atrium	heart
8	chr11:71937600-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:71937800-71948400	Strong transcription	Fetal Intestine Large	intestine
10	chr11:71937800-71948800	Strong transcription	Aorta	Aorta
11	chr11:71937800-71948800	Strong transcription	Spleen	Spleen
12	chr11:71937800-71949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:71937800-71949400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:71937800-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:71938000-71948600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:71938000-71949200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:71938200-71948200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:71938200-71948800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:71938200-71949600	Strong transcription	Liver	Liver
21	chr11:71938200-71949600	Strong transcription	Dnd41	blood
22	chr11:71938400-71950000	Strong transcription	NHEK	skin
23	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:71938600-71948200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:71938600-71948200	Strong transcription	Gastric	stomach
26	chr11:71938600-71948200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:71938600-71949000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:71938800-71948600	Weak transcription	Fetal Brain Male	brain
30	chr11:71938800-71948800	Strong transcription	Esophagus	oesophagus
31	chr11:71938800-71949200	Strong transcription	Osteobl	bone
32	chr11:71939000-71949000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:71939000-71949000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:71939000-71949400	Strong transcription	Ovary	ovary
35	chr11:71939000-71949400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:71939000-71949400	Strong transcription	Thymus	Thymus
37	chr11:71939200-71948200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:71939200-71948200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:71939200-71948400	Strong transcription	Lung	lung
40	chr11:71939200-71948600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:71939200-71948800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:71939200-71948800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:71939200-71948800	Strong transcription	A549	lung
44	chr11:71939200-71949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:71939200-71949200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:71939400-71948200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:71939400-71948600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:71939400-71948600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:71939400-71948600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:71939400-71948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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