Variant report

Variant	rs529048381
Chromosome Location	chr11:45943204-45943205
allele	C/G
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	SP1	chr11:45942999-45944417	H1-hESC	embryonic stem cell:	n/a	chr11:45944188-45944197 chr11:45943904-45943918 chr11:45944137-45944151 chr11:45944108-45944118 chr11:45944137-45944146 chr11:45943786-45943798 chr11:45944109-45944118 chr11:45944107-45944119 chr11:45944136-45944148 chr11:45943786-45943798 chr11:45944189-45944198 chr11:45943905-45943914 chr11:45944109-45944118 chr11:45943841-45943855 chr11:45944187-45944199 chr11:45944108-45944117 chr11:45944107-45944119 chr11:45944137-45944147 chr11:45943903-45943915 chr11:45943903-45943915 chr11:45944137-45944146 chr11:45944138-45944147 chr11:45943904-45943913 chr11:45944187-45944199 chr11:45944104-45944118 chr11:45944136-45944148 chr11:45943787-45943796 chr11:45943844-45943858 chr11:45944108-45944118 chr11:45944328-45944341
2	SIN3A	chr11:45942868-45945276	H1-hESC	embryonic stem cell:	n/a	chr11:45944228-45944241 chr11:45944150-45944161 chr11:45943644-45943653 chr11:45943637-45943650
3	NFIC	chr11:45942901-45944220	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr11:45942936-45944627	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
5	GATA3	chr11:45942945-45944049	T-47D	breast:	n/a	n/a
6	POLR2A	chr11:45943113-45944443	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:45943107-45943456	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXA1	chr11:45942966-45943274	T-47D	breast:	n/a	n/a
9	CTBP2	chr11:45942964-45944255	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr11:45942781-45944534	ECC-1	luminal epithelium:	n/a	chr11:45942994-45943001 chr11:45944326-45944342 chr11:45944234-45944250 chr11:45943936-45943952
11	POLR2A	chr11:45942718-45945382	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr11:45942907-45943400	ECC-1	luminal epithelium:	n/a	n/a
13	ZBTB7A	chr11:45942756-45944675	ECC-1	luminal epithelium:	n/a	chr11:45944107-45944114 chr11:45944141-45944148
14	POLR2A	chr11:45942932-45943960	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr11:45942880-45944600	ECC-1	luminal epithelium:	n/a	chr11:45944386-45944396
16	TEAD4	chr11:45942760-45944448	ECC-1	luminal epithelium:	n/a	n/a
17	ZBTB7A	chr11:45942892-45944794	ECC-1	luminal epithelium:	n/a	chr11:45944107-45944114 chr11:45944141-45944148
18	JUND	chr11:45943113-45944351	H1-hESC	embryonic stem cell:	n/a	chr11:45944008-45944017
19	TCF12	chr11:45942778-45944432	ECC-1	luminal epithelium:	n/a	chr11:45944386-45944396
20	FOXA1	chr11:45943001-45943284	T-47D	breast:	n/a	n/a
21	TAF1	chr11:45943185-45944422	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFIC	chr11:45942917-45944445	ECC-1	luminal epithelium:	n/a	n/a
23	TBP	chr11:45943063-45944410	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr11:45943152-45944016	H1-hESC	embryonic stem cell:	n/a	chr11:45943947-45943957
25	POLR2A	chr11:45943096-45943933	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:45943052-45944552	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr11:45943103-45944161	H1-hESC	embryonic stem cell:	n/a	chr11:45943947-45943957 chr11:45944009-45944018 chr11:45944112-45944122

No.	Distal block	Cell Line	Cell type
1	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
2	chr11:45942684..45944705-chr11:46141351..46143147,2	K562	blood:
3	chr11:45879680..45881437-chr11:45942342..45944046,2	MCF-7	breast:
4	chr11:45942020..45943576-chr11:46141975..46144467,2	MCF-7	breast:

Variant related genes	Relation type
GYLTL1B	TF binding region
PEX16	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3327833	chr11:45942401-45945249	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45940400-45943400	Weak transcription	Fetal Heart	heart
2	chr11:45940400-45943600	Weak transcription	Lung	lung
3	chr11:45940400-45943800	Weak transcription	Aorta	Aorta
4	chr11:45940600-45943400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45940600-45943400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:45940600-45943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:45940600-45943400	Weak transcription	HMEC	breast
8	chr11:45940600-45943600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:45940600-45943600	Enhancers	Brain Substantia Nigra	brain
10	chr11:45940600-45943600	Enhancers	K562	blood
11	chr11:45940600-45943600	Weak transcription	NHEK	skin
12	chr11:45941000-45943400	Enhancers	Primary B cells from cord blood	blood
13	chr11:45941000-45943400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:45941000-45943400	Weak transcription	Liver	Liver
15	chr11:45941000-45943600	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:45941000-45943600	Weak transcription	Right Ventricle	heart
17	chr11:45941000-45943800	Weak transcription	Right Atrium	heart
18	chr11:45941200-45943400	Weak transcription	Left Ventricle	heart
19	chr11:45941200-45943400	Weak transcription	Spleen	Spleen
20	chr11:45941200-45943600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:45941200-45944000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:45941200-45953400	Weak transcription	Dnd41	blood
23	chr11:45941600-45943400	Enhancers	Pancreas	Pancrea
24	chr11:45941800-45943400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:45941800-45943400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:45942000-45943400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:45942000-45943400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:45942000-45943400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:45942400-45943400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:45942400-45943600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr11:45942600-45943800	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr11:45942600-45943800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:45942800-45943400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr11:45942800-45943400	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr11:45942800-45943400	Enhancers	Psoas Muscle	Psoas
36	chr11:45942800-45943600	Flanking Active TSS	HepG2	liver
37	chr11:45942800-45943800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:45942800-45943800	Enhancers	Brain Hippocampus Middle	brain
39	chr11:45942800-45943800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr11:45942800-45943800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr11:45942800-45944000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:45942800-45944200	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr11:45943000-45943400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:45943000-45943400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:45943000-45943400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr11:45943000-45943400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr11:45943000-45943600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:45943000-45943600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:45943000-45943600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:45943000-45943600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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