Variant report

Variant	rs556093010
Chromosome Location	chr11:71817087-71817088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71817025-71817116	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:71816898-71817794	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:71816809-71817319	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:71816919-71817296	K562	blood:	n/a	n/a
5	POLR2A	chr11:71816873-71817265	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:71816775-71817638	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:71816869-71817258	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:71816952-71817185	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:71816933-71817201	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:71816729-71817263	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:71816895-71817301	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71815942..71818522-chr11:71943866..71946809,2	K562	blood:
3	chr11:71817017..71818819-chr21:44311746..44313583,2	MCF-7	breast:

No data

Variant related genes	Relation type
LAMTOR1	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000165458	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814800-71818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:71814800-71820200	Weak transcription	Aorta	Aorta
3	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:71815000-71818400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:71815000-71818400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:71815000-71818400	Weak transcription	Gastric	stomach
7	chr11:71815000-71818400	Weak transcription	Ovary	ovary
8	chr11:71815000-71818800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:71815000-71819000	Weak transcription	Esophagus	oesophagus
10	chr11:71815000-71820400	Weak transcription	Colonic Mucosa	Colon
11	chr11:71815000-71820800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:71815000-71822200	Weak transcription	HSMMtube	muscle
13	chr11:71815000-71822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:71815000-71822400	Weak transcription	HMEC	breast
15	chr11:71815000-71822400	Weak transcription	HUVEC	blood vessel
16	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
20	chr11:71815200-71817200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:71815200-71817200	Strong transcription	NHLF	lung
22	chr11:71815200-71818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:71815200-71818200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:71815200-71818200	Weak transcription	Fetal Thymus	thymus
25	chr11:71815200-71818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:71815200-71818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:71815200-71818400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:71815200-71818400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:71815200-71818400	Weak transcription	Fetal Stomach	stomach
30	chr11:71815200-71818400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:71815200-71818400	Weak transcription	Thymus	Thymus
32	chr11:71815200-71818400	Weak transcription	NHEK	skin
33	chr11:71815200-71818600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:71815200-71818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:71815200-71818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:71815200-71818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:71815200-71818800	Weak transcription	Adipose Nuclei	Adipose
38	chr11:71815200-71818800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:71815200-71818800	Weak transcription	Spleen	Spleen
40	chr11:71815200-71819000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:71815200-71819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:71815200-71819200	Weak transcription	Placenta	Placenta
43	chr11:71815200-71819600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:71815200-71819600	Weak transcription	Right Ventricle	heart
45	chr11:71815200-71820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:71815200-71820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:71815200-71820200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:71815200-71820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:71815200-71820600	Weak transcription	A549	lung
50	chr11:71815200-71821000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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