Variant report

Variant	rs11586396
Chromosome Location	chr1:150121079-150121080
allele	C/T
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	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
2	CEBPB	chr1:150120929-150121141	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
4	CEBPB	chr1:150121042-150121853	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:150120826-150122446	GM12878	blood:	n/a	n/a
6	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr1:150120704-150122559	U87	brain:	n/a	n/a
11	MAZ	chr1:150120991-150124771	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:150120966-150122542	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:150121056-150122431	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:150120794-150121208	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:150121041-150122650	GM12892	blood:	n/a	n/a
16	PML	chr1:150120865-150122520	GM12878	blood:	n/a	chr1:150121206-150121214
17	GATA3	chr1:150120502-150121125	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:150121054-150124276	GM19099	blood:	n/a	n/a
19	POLR2A	chr1:150120752-150122553	U87	brain:	n/a	n/a
20	TAF1	chr1:150121015-150122512	H1-neurons	neurons:	n/a	n/a
21	MTA3	chr1:150120550-150122007	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:150120821-150122446	GM12891	blood:	n/a	n/a
23	YY1	chr1:150120916-150121197	GM12878	blood:	n/a	chr1:150120984-150120994
24	REST	chr1:150120520-150124319	H1-neurons	neurons:	n/a	chr1:150123686-150123699 chr1:150123683-150123696 chr1:150122337-150122350 chr1:150121262-150121269 chr1:150122214-150122224 chr1:150122083-150122093 chr1:150121925-150121938 chr1:150121681-150121701
25	POLR2A	chr1:150120896-150122561	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:150120804-150123844	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr1:150121064-150123691	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:150120563-150124835	GM12878	blood:	n/a	n/a
29	RUNX3	chr1:150121018-150122279	GM12878	blood:	n/a	chr1:150121708-150121723
30	POLR2A	chr1:150121018-150124678	GM18505	blood:	n/a	n/a
31	BCLAF1	chr1:150120699-150122572	GM12878	blood:	n/a	chr1:150122497-150122510 chr1:150122500-150122513 chr1:150121896-150121909 chr1:150122495-150122508 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150122329-150122338 chr1:150121999-150122008 chr1:150122543-150122556 chr1:150122545-150122554 chr1:150122503-150122512

No.	Distal block	Cell Line	Cell type
1	chr1:150047834..150051741-chr1:150120632..150125901,6	MCF-7	breast:
2	chr1:150120783..150123550-chr1:150205612..150208208,2	K562	blood:
3	chr1:150120710..150123122-chr1:155106674..155108306,2	MCF-7	breast:
4	chr1:150063760..150067981-chr1:150120061..150123839,7	MCF-7	breast:
5	chr1:149858884..149861217-chr1:150120977..150123082,2	MCF-7	breast:
6	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000143401	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11580393	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3342683	chr1:150120853-150124201	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
2	chr1:150067400-150121200	Weak transcription	Colonic Mucosa	Colon
3	chr1:150085400-150121200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:150085400-150121200	Weak transcription	Psoas Muscle	Psoas
5	chr1:150085600-150121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:150087000-150121200	Weak transcription	Esophagus	oesophagus
7	chr1:150087000-150121200	Weak transcription	Placenta	Placenta
8	chr1:150094200-150121200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:150099400-150121200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:150101000-150121200	Weak transcription	Lung	lung
11	chr1:150105200-150121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:150108000-150121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:150108200-150121200	Weak transcription	Osteobl	bone
14	chr1:150108800-150121400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:150111400-150121200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:150113400-150121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:150114600-150121400	Weak transcription	Small Intestine	intestine
18	chr1:150114800-150125200	Weak transcription	Hela-S3	cervix
19	chr1:150117200-150121200	Weak transcription	Left Ventricle	heart
20	chr1:150117200-150121400	Weak transcription	Spleen	Spleen
21	chr1:150117200-150121600	Weak transcription	Gastric	stomach
22	chr1:150117400-150121200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:150119200-150121200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:150119600-150121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:150119600-150121200	Weak transcription	Ovary	ovary
26	chr1:150119600-150121400	Weak transcription	K562	blood
27	chr1:150120200-150121200	Bivalent Enhancer	Fetal Thymus	thymus
28	chr1:150120200-150121800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:150120200-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:150120200-150124000	Active TSS	GM12878-XiMat	blood
32	chr1:150120400-150121200	Enhancers	Primary T cells from cord blood	blood
33	chr1:150120400-150121200	Flanking Active TSS	Fetal Heart	heart
34	chr1:150120400-150121800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:150120600-150121200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:150120600-150121200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:150120600-150121400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:150120600-150121600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:150120600-150121600	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:150120600-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:150120600-150122000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:150120800-150121200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:150120800-150121200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:150120800-150121200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:150120800-150121200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:150120800-150121200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:150120800-150121200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:150120800-150121200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:150120800-150121200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:150120800-150121200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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