Variant report

Variant	rs12275382
Chromosome Location	chr11:75275236-75275237
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	chr11:75275180-75275330	BE2_C	brain:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
2	CTCF	chr11:75275125-75275367	H1-hESC	embryonic stem cell:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
3	FOS	chr11:75275213-75275261	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr11:75275072-75275553	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
5	GABPA	chr11:75275000-75275523	K562	blood:	n/a	n/a
6	CTCF	chr11:75275200-75275350	HVMF	connective:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
7	CTCF	chr11:75275120-75275270	NHEK	skin:	n/a	n/a
8	CCNT2	chr11:75274949-75275559	K562	blood:	n/a	chr11:75275393-75275402
9	TAF1	chr11:75275007-75275329	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:75275200-75275350	HMEC	breast:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
11	CTCF	chr11:75275160-75275310	AG10803	skin:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
12	POLR2A	chr11:75272740-75275728	U87	brain:	n/a	n/a
13	CTCF	chr11:75275160-75275310	BJ	skin:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
14	FOS	chr11:75275170-75275250	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF143	chr11:75275069-75275505	H1-hESC	embryonic stem cell:	n/a	chr11:75275386-75275404
16	CTCF	chr11:75275160-75275310	HA-sp	spinal cord:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
17	CHD2	chr11:75275135-75275512	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:75275120-75275270	HA-sp	spinal cord:	n/a	n/a
19	RAD21	chr11:75275122-75275308	K562	blood:	n/a	chr11:75275276-75275290 chr11:75275234-75275247
20	CTCF	chr11:75275140-75275290	GM12864	blood:	n/a	chr11:75275276-75275285
21	MAFK	chr11:75274926-75275308	K562	blood:	n/a	n/a
22	CREB1	chr11:75275000-75275576	H1-hESC	embryonic stem cell:	n/a	chr11:75275265-75275278
23	CTCF	chr11:75275226-75275264	GM13977	blood:	n/a	n/a
24	MAX	chr11:75275036-75275670	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
25	POLR2A	chr11:75272700-75276641	IMR90	lung:	n/a	n/a
26	CTCF	chr11:75275140-75275290	K562	blood:	n/a	chr11:75275276-75275285
27	POLR2A	chr11:75275026-75275389	K562	blood:	n/a	n/a
28	POLR2A	chr11:75275223-75275395	Hela-S3	cervix:	n/a	n/a
29	YY1	chr11:75275000-75275533	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:75272810-75275878	HUVEC	blood vessel:	n/a	n/a
31	EBF1	chr11:75272884-75275329	GM12878	blood:	n/a	chr11:75275182-75275193
32	POLR2A	chr11:75274931-75275500	HUVEC	blood vessel:	n/a	n/a
33	EP300	chr11:75275068-75275454	H1-hESC	embryonic stem cell:	n/a	chr11:75275181-75275197
34	CTCF	chr11:75275180-75275330	AoAF	blood vessel:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
35	CTCF	chr11:75275140-75275290	GM12875	blood:	n/a	chr11:75275276-75275285
36	CTCF	chr11:75275180-75275330	RPTEC	kidney:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
37	POLR2A	chr11:75272559-75277471	K562	blood:	n/a	n/a
38	CTCF	chr11:75275180-75275330	AG09309	skin:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
39	MAZ	chr11:75272651-75275552	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432 chr11:75273132-75273142 chr11:75272857-75272867
40	TAF1	chr11:75274930-75275441	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:75275020-75275455	K562	blood:	n/a	chr11:75275279-75275292 chr11:75275276-75275285
42	TBL1XR1	chr11:75275143-75275399	K562	blood:	n/a	n/a
43	BHLHE40	chr11:75275014-75275474	K562	blood:	n/a	n/a
44	CTCF	chr11:75275140-75275290	SAEC	small airway:	n/a	chr11:75275276-75275285
45	HCFC1	chr11:75275084-75275457	K562	blood:	n/a	n/a
46	UBTF	chr11:75275081-75275330	K562	blood:	n/a	n/a
47	CTCF	chr11:75275100-75275250	NHLF	lung:	n/a	n/a
48	STAT3	chr11:75275217-75275307	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:75272917-75275578	ProgFib	skin:	n/a	n/a
50	CTCF	chr11:75275120-75275270	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
2	chr11:75258322..75259433-chr11:75274625..75275593,5	K562	blood:
3	chr11:75143358..75145748-chr11:75275231..75276876,2	MCF-7	breast:
4	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
5	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
6	chr11:75110328..75112822-chr11:75272063..75275236,3	MCF-7	breast:
7	chr11:75156184..75157014-chr11:75274758..75275984,4	K562	blood:
8	chr11:75274194..75276398-chr11:75306553..75308654,2	K562	blood:
9	chr11:75099765..75100418-chr11:75274785..75275688,2	K562	blood:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000255434	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11236457	1.00[AFR][1000 genomes]
rs11236462	1.00[AMR][1000 genomes]
rs11236463	1.00[AMR][1000 genomes]
rs12274118	1.00[AMR][1000 genomes]
rs12978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35618597	1.00[EUR][1000 genomes]
rs58440786	1.00[AMR][1000 genomes]
rs73504526	1.00[AMR][1000 genomes]
rs73505003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73505007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75272600-75275400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:75272600-75275400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr11:75272600-75275400	Active TSS	Ovary	ovary
4	chr11:75272600-75275600	Active TSS	Brain Anterior Caudate	brain
5	chr11:75272800-75275400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:75272800-75275400	Active TSS	Fetal Kidney	kidney
7	chr11:75272800-75275600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:75272800-75275600	Active TSS	Aorta	Aorta
9	chr11:75272800-75275800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr11:75273000-75275400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:75273000-75275400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:75273000-75275400	Active TSS	Placenta Amnion	Placenta Amnion
13	chr11:75273000-75275400	Active TSS	HSMM	muscle
14	chr11:75273000-75275400	Active TSS	NH-A	brain
15	chr11:75273000-75275400	Active TSS	NHDF-Ad	bronchial
16	chr11:75273000-75275600	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:75273000-75275600	Active TSS	Lung	lung
18	chr11:75273000-75275600	Active TSS	HSMMtube	muscle
19	chr11:75273000-75275800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:75273400-75275600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:75273800-75275400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:75273800-75275600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr11:75273800-75275600	Flanking Active TSS	Placenta	Placenta
24	chr11:75273800-75275600	Flanking Active TSS	Fetal Thymus	thymus
25	chr11:75273800-75275600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:75273800-75276200	Flanking Active TSS	NHEK	skin
27	chr11:75274000-75275400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:75274000-75275600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:75274000-75275600	Flanking Active TSS	Colonic Mucosa	Colon
30	chr11:75274000-75275800	Flanking Active TSS	K562	blood
31	chr11:75274000-75277000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:75274000-75277200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
33	chr11:75274000-75277600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
34	chr11:75274000-75277800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr11:75274000-75280200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:75274200-75278200	Transcr. at gene 5' and 3'	NHLF	lung
37	chr11:75274400-75275400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:75274400-75275400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:75274400-75275400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:75274400-75275600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:75274400-75275600	Flanking Active TSS	A549	lung
42	chr11:75274400-75276000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:75274400-75276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:75274400-75278000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:75274600-75275400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:75274600-75275600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:75274600-75275600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr11:75274600-75275600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
49	chr11:75274600-75275600	Flanking Active TSS	Fetal Lung	lung
50	chr11:75274600-75275800	Flanking Active TSS	HMEC	breast

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