Variant report

Variant	rs374244636
Chromosome Location	chr11:71163317-71163318
allele	A/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	POLR2A	chr11:71162941-71164422	K562	blood:	n/a	n/a
2	YY1	chr11:71163283-71163544	GM12878	blood:	n/a	n/a
3	YY1	chr11:71163041-71163365	GM12878	blood:	n/a	n/a
4	MAX	chr11:71163303-71164738	ECC-1	luminal epithelium:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
5	EBF1	chr11:71163309-71163617	GM12878	blood:	n/a	chr11:71163382-71163393
6	SIN3A	chr11:71162879-71164895	H1-hESC	embryonic stem cell:	n/a	chr11:71163984-71163995
7	EP300	chr11:71163275-71163716	GM12878	blood:	n/a	chr11:71163341-71163355 chr11:71163325-71163334 chr11:71163324-71163338
8	RCOR1	chr11:71163206-71163910	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:71163017-71164666	GM12891	blood:	n/a	n/a
10	ZNF384	chr11:71163164-71163603	GM12878	blood:	n/a	n/a
11	RUNX3	chr11:71163184-71163688	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr11:71163221-71163879	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr11:71162796-71165203	MCF-7	breast:	n/a	n/a
14	POU2F2	chr11:71162754-71163321	GM12878	blood:	n/a	chr11:71162996-71163009
15	MAX	chr11:71162897-71165124	NB4	blood:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
16	POLR2A	chr11:71163228-71164653	SK-N-MC	brain:	n/a	n/a
17	TEAD4	chr11:71162964-71163685	K562	blood:	n/a	n/a
18	CHD1	chr11:71162906-71163387	GM12878	blood:	n/a	n/a
19	MAX	chr11:71163257-71164798	ECC-1	luminal epithelium:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
20	MAX	chr11:71163112-71164619	GM12878	blood:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
21	MXI1	chr11:71163244-71164694	GM12878	blood:	n/a	n/a
22	SPI1	chr11:71163165-71163524	GM12878	blood:	n/a	n/a
23	MTA3	chr11:71163177-71164808	GM12878	blood:	n/a	n/a
24	EBF1	chr11:71163291-71163683	GM12878	blood:	n/a	chr11:71163382-71163393
25	SPI1	chr11:71163149-71163498	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:71163062-71164603	HL-60	blood:	n/a	n/a
27	MYC	chr11:71162882-71165076	NB4	blood:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
28	POLR2A	chr11:71163024-71164731	GM18505	blood:	n/a	n/a
29	FOXM1	chr11:71163315-71163821	GM12878	blood:	n/a	n/a
30	MAFF	chr11:71163118-71163431	K562	blood:	n/a	n/a
31	RUNX3	chr11:71163171-71164831	GM12878	blood:	n/a	n/a
32	NFIC	chr11:71163171-71163683	GM12878	blood:	n/a	n/a
33	MYC	chr11:71163077-71165052	K562	blood:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
34	GABPA	chr11:71163262-71164000	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:71163258-71164856	HL-60	blood:	n/a	n/a
36	MAFK	chr11:71163171-71163398	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:71162969-71164630	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:71163285-71164599	HUVEC	blood vessel:	n/a	n/a
39	BHLHE40	chr11:71163260-71165062	GM12878	blood:	n/a	n/a
40	IRF1	chr11:71162923-71163616	K562	blood:	n/a	n/a
41	MAX	chr11:71163312-71164837	MCF-7	breast:	n/a	chr11:71163738-71163749 chr11:71163735-71163750 chr11:71164231-71164241
42	ELF1	chr11:71163311-71164786	MCF-7	breast:	n/a	chr11:71164249-71164260
43	MAFK	chr11:71162866-71163395	K562	blood:	n/a	n/a
44	POLR2A	chr11:71162982-71164497	NB4	blood:	n/a	n/a
45	MXI1	chr11:71163050-71164946	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71157940..71161417-chr11:71161465..71165970,9	K562	blood:
2	chr11:70652696..70654215-chr11:71163128..71165343,2	MCF-7	breast:
3	chr11:71162324..71166430-chr11:71186520..71190924,4	K562	blood:
4	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
5	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NADSYN1-1	chr11:71162736-71164062	NONHSAT022678

Variant related genes	Relation type
NADSYN1	TF binding region
DHCR7	TF binding region
ENSG00000204572	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000162105	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	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
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71160600-71163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71160600-71163400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:71160600-71163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:71160600-71163400	Weak transcription	HSMMtube	muscle
5	chr11:71160800-71163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:71160800-71163400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:71160800-71163400	Enhancers	Fetal Intestine Small	intestine
8	chr11:71160800-71163400	Weak transcription	Ovary	ovary
9	chr11:71160800-71163600	Weak transcription	Aorta	Aorta
10	chr11:71161000-71163400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:71161000-71163400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:71161000-71163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:71161000-71163400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:71161200-71163400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:71161200-71163400	Weak transcription	A549	lung
16	chr11:71161200-71163400	Enhancers	Hela-S3	cervix
17	chr11:71161200-71163400	Weak transcription	NH-A	brain
18	chr11:71161400-71163400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:71161400-71163600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:71161600-71164000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:71162000-71163400	Enhancers	Fetal Brain Male	brain
22	chr11:71162200-71163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:71162200-71163800	Flanking Active TSS	Dnd41	blood
24	chr11:71162400-71163400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:71162400-71163400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:71162400-71163400	Enhancers	Fetal Lung	lung
27	chr11:71162400-71163800	Enhancers	Spleen	Spleen
28	chr11:71162400-71163800	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:71162600-71163400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:71162600-71163400	Enhancers	Lung	lung
31	chr11:71162600-71163400	Enhancers	NHDF-Ad	bronchial
32	chr11:71162600-71163600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:71162600-71163600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:71162600-71163800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:71162600-71164000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:71162600-71164000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:71162600-71165400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:71162800-71163400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:71162800-71163400	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:71162800-71163400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:71162800-71163400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr11:71162800-71163400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:71162800-71163400	Enhancers	Gastric	stomach
44	chr11:71162800-71163400	Enhancers	Small Intestine	intestine
45	chr11:71162800-71163400	Enhancers	HepG2	liver
46	chr11:71162800-71163400	Enhancers	HMEC	breast
47	chr11:71162800-71163600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:71162800-71163600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:71162800-71163600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:71162800-71163800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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