Variant report

Variant	rs12536027
Chromosome Location	chr7:150903746-150903747
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	CEBPD	chr7:150903646-150904604	K562	blood:	n/a	n/a
2	GATA1	chr7:150903641-150904933	K562	blood:	n/a	chr7:150904463-150904474
3	POLR2A	chr7:150903606-150903749	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150868213..150870135-chr7:150902617..150904463,2	MCF-7	breast:
2	chr7:150864964..150867853-chr7:150902641..150905737,3	K562	blood:
3	chr7:150891021..150894047-chr7:150903190..150905839,3	MCF-7	breast:
4	chr7:150864964..150867853-chr7:150903647..150905737,2	K562	blood:
5	chr7:150903033..150905442-chr7:150914497..150916686,3	MCF-7	breast:

Variant related genes	Relation type
IQCA1P1	TF binding region
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10952299	1.00[ASN][1000 genomes]
rs12533535	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13228980	1.00[ASN][1000 genomes]
rs13230325	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13244540	1.00[ASN][1000 genomes]
rs35102612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159986	1.00[ASN][1000 genomes]
rs35545989	1.00[ASN][1000 genomes]
rs35637117	1.00[ASN][1000 genomes]
rs428859	1.00[ASN][1000 genomes]
rs432519	1.00[ASN][1000 genomes]
rs439031	1.00[ASN][1000 genomes]
rs445933	1.00[ASN][1000 genomes]
rs71539869	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73169681	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS 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	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150885000-150910000	Weak transcription	Right Atrium	heart
2	chr7:150899000-150909600	Weak transcription	Aorta	Aorta
3	chr7:150900800-150904600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:150901800-150904000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr7:150901800-150910000	Weak transcription	Ovary	ovary
6	chr7:150902000-150906000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:150902000-150910200	Weak transcription	Right Ventricle	heart
8	chr7:150902000-150910400	Weak transcription	Pancreas	Pancrea
9	chr7:150902200-150904000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:150902400-150907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:150902600-150905800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:150902800-150903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:150902800-150905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr7:150903000-150905400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:150903000-150905800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:150903000-150905800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:150903000-150905800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:150903000-150908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:150903200-150904000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:150903200-150905400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:150903200-150906600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:150903200-150909600	Weak transcription	Spleen	Spleen
23	chr7:150903600-150905400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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