Variant report

Variant	rs557634324
Chromosome Location	chr11:71815750-71815751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71815399-71815804	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:71813300-71815763	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:71815726-71816378	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:71815418-71815902	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:71812096-71815828	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:71815686-71815813	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:71815608-71815772	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
3	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
4	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
5	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
6	chr11:71813081..71815809-chr11:72144185..72147079,2	K562	blood:
7	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:

No data

Variant related genes	Relation type
LAMTOR1	TF binding region
LRTOMT	TF binding region
ENSG00000162129	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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	nsv983187	chr11:71815746-71821103	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814800-71816400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:71814800-71818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:71814800-71820200	Weak transcription	Aorta	Aorta
4	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:71815000-71815800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:71815000-71815800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:71815000-71816200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:71815000-71816800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:71815000-71817000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:71815000-71817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:71815000-71818400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:71815000-71818400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:71815000-71818400	Weak transcription	Gastric	stomach
14	chr11:71815000-71818400	Weak transcription	Ovary	ovary
15	chr11:71815000-71818800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:71815000-71819000	Weak transcription	Esophagus	oesophagus
17	chr11:71815000-71820400	Weak transcription	Colonic Mucosa	Colon
18	chr11:71815000-71820800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:71815000-71822200	Weak transcription	HSMMtube	muscle
20	chr11:71815000-71822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:71815000-71822400	Weak transcription	HMEC	breast
22	chr11:71815000-71822400	Weak transcription	HUVEC	blood vessel
23	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
27	chr11:71815200-71815800	Enhancers	Pancreas	Pancrea
28	chr11:71815200-71815800	Active TSS	Stomach Mucosa	stomach
29	chr11:71815200-71815800	Enhancers	K562	blood
30	chr11:71815200-71816000	Weak transcription	Fetal Brain Female	brain
31	chr11:71815200-71816200	Weak transcription	Primary T cells from cord blood	blood
32	chr11:71815200-71816800	Weak transcription	Brain Germinal Matrix	brain
33	chr11:71815200-71817000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:71815200-71817200	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:71815200-71817200	Strong transcription	NHLF	lung
36	chr11:71815200-71818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:71815200-71818200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:71815200-71818200	Weak transcription	Fetal Thymus	thymus
39	chr11:71815200-71818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:71815200-71818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:71815200-71818400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:71815200-71818400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:71815200-71818400	Weak transcription	Fetal Stomach	stomach
44	chr11:71815200-71818400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:71815200-71818400	Weak transcription	Thymus	Thymus
46	chr11:71815200-71818400	Weak transcription	NHEK	skin
47	chr11:71815200-71818600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:71815200-71818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:71815200-71818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:71815200-71818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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