Variant report

Variant	rs35499749
Chromosome Location	chr11:74108571-74108572
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	CTCF	chr11:74108540-74108690	HAc	cerebellar:	n/a	n/a
2	POLR2A	chr11:74108443-74110343	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr11:74108540-74108690	AG04449	skin:	n/a	n/a
4	RAD21	chr11:74108473-74108732	SK-N-SH_RA	brain:	n/a	chr11:74108526-74108539
5	CTCF	chr11:74108500-74108650	NHEK	skin:	n/a	n/a
6	CTCF	chr11:74108520-74108670	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr11:74108555-74108695	MCF-7	breast:	n/a	n/a
8	STAT3	chr11:74108523-74108747	MCF10A-Er-Src	breast:	n/a	chr11:74108726-74108733
9	CTCF	chr11:74108480-74108630	BJ	skin:	n/a	n/a
10	CTCF	chr11:74108560-74108710	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr11:74108540-74108690	NB4	blood:	n/a	n/a
12	USF2	chr11:74108493-74108715	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:74108520-74108670	K562	blood:	n/a	n/a
14	CTCF	chr11:74108527-74108731	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:74108540-74108690	BE2_C	brain:	n/a	n/a
16	RAD21	chr11:74108501-74109024	IMR90	lung:	n/a	chr11:74108973-74108986 chr11:74108526-74108539 chr11:74108909-74108923 chr11:74108972-74108984
17	CTCF	chr11:74108480-74108630	HCT-116	colon:	n/a	n/a
18	CTCF	chr11:74108560-74108710	GM12878	blood:	n/a	n/a
19	CTCF	chr11:74108540-74108690	HMEC	breast:	n/a	n/a
20	POLR2A	chr11:74108437-74110578	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr11:74108560-74108710	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr11:74108560-74108710	Caco-2	colon:	n/a	n/a
23	CTCF	chr11:74108540-74108690	GM12864	blood:	n/a	n/a
24	CTCF	chr11:74108560-74108710	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr11:74108540-74108690	HFF	foreskin:	n/a	n/a
26	CTCF	chr11:74108540-74108690	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr11:74108460-74108610	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr11:74108560-74108710	GM12872	blood:	n/a	n/a
29	STAT3	chr11:74108541-74108741	MCF10A-Er-Src	breast:	n/a	chr11:74108726-74108733
30	CTCF	chr11:74108520-74108670	HMF	breast:	n/a	n/a
31	CTCF	chr11:74108540-74108753	K562	blood:	n/a	n/a
32	CTCF	chr11:74108480-74108630	HEK293	kidney:	n/a	n/a
33	UBTF	chr11:74108520-74108801	K562	blood:	n/a	n/a
34	KAP1	chr11:74108546-74109016	HEK293	kidney:	n/a	n/a
35	CTCF	chr11:74108520-74108670	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr11:74108540-74108690	GM12873	blood:	n/a	n/a
37	CTCF	chr11:74108500-74108650	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr11:74108520-74108670	GM12869	blood:	n/a	n/a
39	RFX5	chr11:74108476-74108973	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr11:74108347-74110344	IMR90	lung:	n/a	n/a
41	POLR2A	chr11:74108395-74110386	H1-neurons	neurons:	n/a	n/a
42	CTCF	chr11:74108540-74108690	HCT-116	colon:	n/a	n/a
43	CTCF	chr11:74108560-74108710	SAEC	small airway:	n/a	n/a
44	CTCF	chr11:74108560-74108710	AG10803	skin:	n/a	n/a
45	HCFC1	chr11:74108250-74110787	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:74108540-74108690	AG09309	skin:	n/a	n/a
47	CTCF	chr11:74108520-74108670	HRPEpiC	eye:	n/a	n/a
48	POLR2A	chr11:74108542-74110200	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:74108520-74108670	NHEK	skin:	n/a	n/a
50	CTCF	chr11:74108500-74108650	BE2_C	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000254631	TF binding region
MIR548AL	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34746876	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74103200-74108600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:74105600-74108600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:74107200-74110400	Active TSS	Fetal Brain Female	brain
4	chr11:74107800-74108600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:74107800-74108800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:74107800-74108800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:74107800-74108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:74107800-74110000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:74107800-74110000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:74107800-74110000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:74107800-74110000	Active TSS	Fetal Lung	lung
14	chr11:74107800-74110000	Active TSS	NH-A	brain
15	chr11:74107800-74110400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:74107800-74110400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:74107800-74110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:74107800-74110400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:74107800-74110400	Active TSS	Thymus	Thymus
20	chr11:74107800-74110600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:74107800-74110600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:74107800-74110600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:74107800-74110800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:74108000-74108600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:74108000-74108600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:74108000-74108600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:74108000-74108600	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:74108000-74109400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:74108000-74110000	Active TSS	Fetal Thymus	thymus
30	chr11:74108000-74110200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:74108000-74110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:74108000-74110400	Active TSS	Brain Anterior Caudate	brain
33	chr11:74108000-74110600	Active TSS	Fetal Brain Male	brain
34	chr11:74108000-74110600	Active TSS	Fetal Kidney	kidney
35	chr11:74108000-74110600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:74108200-74108600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:74108200-74108600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:74108200-74108600	Enhancers	HepG2	liver
39	chr11:74108200-74108800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr11:74108200-74108800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:74108200-74108800	Active TSS	Brain Germinal Matrix	brain
42	chr11:74108200-74108800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:74108200-74108800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:74108200-74108800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:74108200-74109000	Flanking Active TSS	Hela-S3	cervix
46	chr11:74108200-74109400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr11:74108200-74110000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:74108200-74110000	Active TSS	HMEC	breast
49	chr11:74108200-74110000	Active TSS	HUVEC	blood vessel
50	chr11:74108200-74110400	Active TSS	H9 Cell Line	embryonic stem cell

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