Variant report

Variant	rs572797906
Chromosome Location	chr11:34642885-34642886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:34642155-34643330	T-47D	breast:	n/a	chr11:34642891-34642901
2	GATA3	chr11:34642840-34643290	T-47D	breast:	n/a	chr11:34642891-34642901

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34642885-34642935	H1-hESC	embryonic stem cell:	embryo
2	chr11:34642885-34642935	CMK	blood:	n/a
3	chr11:34642885-34642935	HRE	kidney:	n/a
4	chr11:34642885-34642935	NT2-D1	testis:	n/a
5	chr11:34642885-34642935	GM06990	blood:	n/a
6	chr11:34642885-34642935	HEEpiC	esophagus:	n/a
7	chr11:34642885-34642935	HRPEpiC	eye:	n/a
8	chr11:34642885-34642935	PANC-1	pancreas:	n/a
9	chr11:34642885-34642935	HMEC	breast:	n/a
10	chr11:34642885-34642935	HCM	heart:	n/a
11	chr11:34642885-34642935	NB4	blood:	n/a
12	chr11:34642885-34642935	NHDF-neo	bronchial:	n/a
13	chr11:34642885-34642935	AG04449	skin:	fetal
14	chr11:34642885-34642935	GM12891	blood:	n/a
15	chr11:34642885-34642935	SK-N-SH	brain:	n/a
16	chr11:34642885-34642935	IMR90	lung:	fetal
17	chr11:34642885-34642935	NH-A	brain:	n/a
18	chr11:34642885-34642935	RPTEC	kidney:	n/a
19	chr11:34642885-34642935	SK-N-SH_RA	brain:	n/a
20	chr11:34642885-34642935	HAEpiC	amniotic membrane:	n/a
21	chr11:34642885-34642935	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:34642885-34642935	AG04450	lung:	fetal
23	chr11:34642885-34642935	Hela-S3	cervix:	n/a
24	chr11:34642885-34642935	SKMC	muscle:	n/a
25	chr11:34642885-34642935	AG10803	skin:	n/a
26	chr11:34642885-34642935	Hepatocyte	liver:	n/a
27	chr11:34642885-34642935	HIPEpiC	eye:	n/a
28	chr11:34642885-34642935	ovcar-3	ovarian:	n/a
29	chr11:34642885-34642935	HRCEpiC	kidney:	n/a
30	chr11:34642885-34642935	K562	blood:	n/a
31	chr11:34642885-34642935	HNPCEpiC	eye:	n/a
32	chr11:34642885-34642935	U87	brain:	n/a
33	chr11:34642885-34642935	A549	lung:	n/a
34	chr11:34642885-34642935	NHBE	bronchial:	n/a
35	chr11:34642885-34642935	GM12878	blood:	n/a
36	chr11:34642885-34642935	Jurkat	blood:	n/a
37	chr11:34642885-34642935	HCF	heart:	n/a
38	chr11:34642885-34642935	MCF-7	breast:	n/a
39	chr11:34642885-34642935	AG09309	skin:	n/a
40	chr11:34642885-34642935	AG09319	gingival:	n/a
41	chr11:34642885-34642935	BE2_C	brain:	n/a
42	chr11:34642885-34642935	HUVEC	blood vessel:	n/a
43	chr11:34642885-34642935	HCT-116	colon:	n/a
44	chr11:34642885-34642935	MCF10A-Er-Src	breast:	n/a
45	chr11:34642885-34642935	HL-60	blood:	n/a
46	chr11:34642885-34642935	BJ	skin:	n/a
47	chr11:34642885-34642935	SAEC	small airway:	n/a
48	chr11:34642885-34642935	HEK293	kidney:	embryo
49	chr11:34642885-34642935	SK-N-MC	brain:	n/a
50	chr11:34642885-34642935	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34641972..34644254-chr11:34644762..34647514,2	MCF-7	breast:

No data

Variant related genes	Relation type
EHF	TF binding region
EHF	CpG island
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
7	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34634000-34643200	Weak transcription	Lung	lung
3	chr11:34635000-34643400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:34636200-34644000	Enhancers	K562	blood
5	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
7	chr11:34640000-34643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:34640400-34643200	Enhancers	Placenta	Placenta
9	chr11:34641000-34643400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:34641800-34644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
12	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:34642200-34643200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:34642200-34643600	Active TSS	Pancreas	Pancrea
15	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
17	chr11:34642400-34643400	Active TSS	NHEK	skin
18	chr11:34642400-34644400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:34642400-34644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:34642400-34645400	Active TSS	Colonic Mucosa	Colon
21	chr11:34642400-34645400	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
24	chr11:34642600-34644000	Active TSS	Fetal Kidney	kidney
25	chr11:34642600-34644200	Active TSS	Fetal Stomach	stomach
26	chr11:34642600-34644200	Flanking Active TSS	HMEC	breast
27	chr11:34642800-34643200	Active TSS	Fetal Intestine Small	intestine
28	chr11:34642800-34643200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:34642800-34643600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:34642800-34647000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:34642800-34647200	Active TSS	Gastric	stomach
32	chr11:34642800-34647200	Active TSS	Sigmoid Colon	Sigmoid Colon

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