Variant report

Variant	rs7105138
Chromosome Location	chr11:86013157-86013158
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr11:86013048-86013785	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:86013033-86013762	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:86013038-86013705	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr11:86013038-86013492	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr11:86013016-86013481	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:86012959-86013845	GM12892	blood:	n/a	n/a
7	NR2F2	chr11:86013017-86013697	K562	blood:	n/a	chr11:86013311-86013326
8	POU2F2	chr11:86013000-86013725	GM12891	blood:	n/a	n/a
9	NR2C2	chr11:86013109-86013525	K562	blood:	n/a	chr11:86013311-86013326 chr11:86013313-86013326
10	NFIC	chr11:86012833-86013581	ECC-1	luminal epithelium:	n/a	chr11:86013171-86013199
11	UBTF	chr11:86013138-86013620	K562	blood:	n/a	n/a
12	YY1	chr11:86012995-86013875	ECC-1	luminal epithelium:	n/a	n/a
13	SMARCC2	chr11:86013016-86013906	Hela-S3	cervix:	n/a	chr11:86013204-86013213
14	POLR2A	chr11:86013109-86013864	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:86013040-86013788	A549	lung:	n/a	n/a
16	TBL1XR1	chr11:86013023-86013762	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:86013045-86014019	PANC-1	pancreas:	n/a	n/a
18	RUNX3	chr11:86012936-86013746	GM12878	blood:	n/a	n/a
19	MAX	chr11:86013039-86013842	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:86013033-86013669	A549	lung:	n/a	n/a
21	HEY1	chr11:86012913-86013654	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:86012981-86013875	ECC-1	luminal epithelium:	n/a	n/a
23	SRF	chr11:86013060-86013399	GM12878	blood:	n/a	n/a
24	ELK4	chr11:86013001-86013323	HEK293	kidney:	n/a	chr11:86013268-86013279
25	CUX1	chr11:86013027-86014241	K562	blood:	n/a	n/a
26	HA-E2F1	chr11:86012979-86013768	MCF-7	breast:	n/a	chr11:86013592-86013601
27	TEAD4	chr11:86012971-86014354	K562	blood:	n/a	n/a
28	ELF1	chr11:86012857-86013582	GM12878	blood:	n/a	chr11:86013268-86013277 chr11:86013267-86013278 chr11:86013265-86013278
29	YY1	chr11:86012991-86013797	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr11:86012951-86013755	ECC-1	luminal epithelium:	n/a	n/a
31	SIN3AK20	chr11:86013062-86013570	HepG2	liver:	n/a	n/a
32	STAT5A	chr11:86012957-86013538	GM12878	blood:	n/a	chr11:86013163-86013172 chr11:86013157-86013177 chr11:86013162-86013171 chr11:86013163-86013171
33	TEAD4	chr11:86012881-86013516	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:86012875-86014435	PBDE	blood:	n/a	n/a
35	MAX	chr11:86012981-86013879	SK-N-SH	brain:	n/a	n/a
36	TAF1	chr11:86013015-86013755	H1-hESC	embryonic stem cell:	n/a	n/a
37	BCLAF1	chr11:86012947-86013619	K562	blood:	n/a	n/a
38	WRNIP1	chr11:86013002-86014128	GM12878	blood:	n/a	n/a
39	ATF3	chr11:86013073-86013503	K562	blood:	n/a	n/a
40	POLR2A	chr11:86012778-86014162	MCF10A-Er-Src	breast:	n/a	n/a
41	BCLAF1	chr11:86012942-86013616	GM12878	blood:	n/a	n/a
42	BCLAF1	chr11:86012955-86013709	GM12878	blood:	n/a	chr11:86013611-86013620
43	TAF1	chr11:86013072-86013738	K562	blood:	n/a	n/a
44	POLR2A	chr11:86012979-86013677	K562	blood:	n/a	n/a
45	POLR2A	chr11:86012838-86013815	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr11:86013044-86013519	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr11:86012993-86013525	HepG2	liver:	n/a	n/a
48	ETS1	chr11:86012927-86013575	GM12878	blood:	n/a	chr11:86013269-86013278 chr11:86013124-86013137 chr11:86013326-86013337 chr11:86013269-86013278 chr11:86013202-86013215 chr11:86013269-86013286 chr11:86013201-86013214
49	SIN3AK20	chr11:86013070-86013606	K562	blood:	n/a	n/a
50	POLR2A	chr11:86013052-86013167	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86013123-86013173	PFSK-1	brain:	n/a
2	chr11:86013123-86013173	HUVEC	blood vessel:	n/a
3	chr11:86013123-86013173	SKMC	muscle:	n/a
4	chr11:86013123-86013173	ECC-1	luminal epithelium:	n/a
5	chr11:86013123-86013173	HRE	kidney:	n/a
6	chr11:86013123-86013173	PrEC	prostate:	n/a
7	chr11:86013123-86013173	HCF	heart:	n/a
8	chr11:86013123-86013173	HMEC	breast:	n/a
9	chr11:86013123-86013173	A549	lung:	n/a
10	chr11:86013123-86013173	T-47D	breast:	n/a
11	chr11:86013123-86013173	ovcar-3	ovarian:	n/a
12	chr11:86013123-86013173	AG09319	gingival:	n/a
13	chr11:86013123-86013173	Hela-S3	cervix:	n/a
14	chr11:86013123-86013173	RPTEC	kidney:	n/a
15	chr11:86013123-86013173	NH-A	brain:	n/a
16	chr11:86013123-86013173	Hepatocyte	liver:	n/a
17	chr11:86013123-86013173	SK-N-SH	brain:	n/a
18	chr11:86013123-86013173	HNPCEpiC	eye:	n/a
19	chr11:86013123-86013173	U87	brain:	n/a
20	chr11:86013123-86013173	NT2-D1	testis:	n/a
21	chr11:86013123-86013173	NB4	blood:	n/a
22	chr11:86013123-86013173	HepG2	liver:	n/a
23	chr11:86013123-86013173	HL-60	blood:	n/a
24	chr11:86013123-86013173	SK-N-MC	brain:	n/a
25	chr11:86013123-86013173	MCF-7	breast:	n/a
26	chr11:86013123-86013173	Caco-2	colon:	n/a
27	chr11:86013123-86013173	HEEpiC	esophagus:	n/a
28	chr11:86013123-86013173	HCM	heart:	n/a
29	chr11:86013123-86013173	SK-N-SH_RA	brain:	n/a
30	chr11:86013123-86013173	AG09309	skin:	n/a
31	chr11:86013123-86013173	GM19239	blood:	n/a
32	chr11:86013123-86013173	HRPEpiC	eye:	n/a
33	chr11:86013123-86013173	HRCEpiC	kidney:	n/a
34	chr11:86013123-86013173	HAEpiC	amniotic membrane:	n/a
35	chr11:86013123-86013173	LNCaP	prostate:	n/a
36	chr11:86013123-86013173	Jurkat	blood:	n/a
37	chr11:86013123-86013173	K562	blood:	n/a
38	chr11:86013123-86013173	IMR90	lung:	fetal
39	chr11:86013123-86013173	ProgFib	skin:	n/a
40	chr11:86013123-86013173	GM12891	blood:	n/a
41	chr11:86013123-86013173	BJ	skin:	n/a
42	chr11:86013123-86013173	MCF10A-Er-Src	breast:	n/a
43	chr11:86013123-86013173	GM06990	blood:	n/a
44	chr11:86013123-86013173	AoSMC	blood vessel:	n/a
45	chr11:86013123-86013173	AG04449	skin:	fetal
46	chr11:86013123-86013173	HEK293	kidney:	embryo
47	chr11:86013123-86013173	GM12892	blood:	n/a
48	chr11:86013123-86013173	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:86013123-86013173	NHDF-neo	bronchial:	n/a
50	chr11:86013123-86013173	HCPEpiC	choroid plexus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85955907..85958640-chr11:86011728..86014261,2	MCF-7	breast:
2	chr11:85978505..85980119-chr11:86012077..86014955,2	K562	blood:
3	chr11:86010873..86013514-chr11:86034864..86037459,2	K562	blood:

No data

Variant related genes	Relation type
C11orf73	TF binding region
C11orf73	CpG island
ENSG00000074266	Chromatin interaction
ENSG00000239856	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs7114910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs73511876	0.83[AFR][1000 genomes]
rs73511888	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73511892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs7942577	1.00[CHB][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv519914	chr11:86010789-86013361	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85995800-86013200	Weak transcription	Esophagus	oesophagus
2	chr11:85995800-86013200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:86012200-86014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:86012600-86013400	Active TSS	HepG2	liver
5	chr11:86012600-86013600	Active TSS	Primary B cells from cord blood	blood
6	chr11:86012600-86013800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:86012600-86013800	Active TSS	Brain Substantia Nigra	brain
8	chr11:86012600-86014000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:86012600-86014000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:86012600-86014000	Active TSS	Brain Angular Gyrus	brain
11	chr11:86012600-86014000	Active TSS	Colon Smooth Muscle	Colon
12	chr11:86012600-86014200	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:86012600-86014200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:86012600-86014200	Active TSS	NHLF	lung
15	chr11:86012600-86014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:86012600-86014400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:86012600-86014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:86012600-86014400	Active TSS	Brain Germinal Matrix	brain
19	chr11:86012600-86014400	Active TSS	Fetal Kidney	kidney
20	chr11:86012600-86014400	Active TSS	HMEC	breast
21	chr11:86012600-86014600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:86012600-86014600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:86012600-86014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:86012600-86014600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:86012600-86015200	Active TSS	K562	blood
26	chr11:86012800-86013200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:86012800-86013200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:86012800-86013200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr11:86012800-86013200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr11:86012800-86013200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:86012800-86013200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:86012800-86013200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:86012800-86013200	Enhancers	Fetal Heart	heart
34	chr11:86012800-86013200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:86012800-86013200	Flanking Active TSS	NHEK	skin
36	chr11:86012800-86013600	Active TSS	Primary hematopoietic stem cells	blood
37	chr11:86012800-86013800	Active TSS	Adipose Nuclei	Adipose
38	chr11:86012800-86013800	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:86012800-86014000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:86012800-86014000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:86012800-86014000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:86012800-86014000	Active TSS	Fetal Brain Male	brain
43	chr11:86012800-86014000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:86012800-86014000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:86012800-86014000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:86012800-86014000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:86012800-86014000	Active TSS	NH-A	brain
48	chr11:86012800-86014200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:86012800-86014200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:86012800-86014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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