Variant report

Variant	rs12567002
Chromosome Location	chr1:84708602-84708603
allele	G/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	POLR2A	chr1:84708377-84708779	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84703877..84705548-chr1:84707085..84709584,2	K562	blood:
2	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:

Variant related genes	Relation type
ENSG00000226970	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10430066	0.81[CHD][hapmap];1.00[EUR][1000 genomes]
rs12030564	1.00[EUR][1000 genomes]
rs12039442	1.00[EUR][1000 genomes]
rs12047035	1.00[EUR][1000 genomes]
rs2812448	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[EUR][1000 genomes]
rs582201	1.00[EUR][1000 genomes]
rs599941	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655849	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657603	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs685104	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1816427	chr1:84670816-84715634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1823244	chr1:84670816-84715634	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv1824568	chr1:84670816-84715634	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv1822734	chr1:84678418-84715634	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv1845114	chr1:84678418-84715634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv1851921	chr1:84678418-84715634	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv1824421	chr1:84704329-84719245	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84666800-84710200	Weak transcription	HSMMtube	muscle
2	chr1:84672600-84711200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:84675200-84712800	Weak transcription	NH-A	brain
4	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:84690400-84711800	Weak transcription	Spleen	Spleen
7	chr1:84691200-84712200	Weak transcription	Pancreas	Pancrea
8	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:84699800-84711600	Weak transcription	A549	lung
10	chr1:84701200-84711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:84701200-84713200	Weak transcription	Colonic Mucosa	Colon
12	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:84701400-84713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:84701400-84713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
18	chr1:84701400-84719800	Weak transcription	HSMM	muscle
19	chr1:84701800-84710200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:84701800-84711600	Weak transcription	Fetal Lung	lung
21	chr1:84702800-84713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:84705600-84711200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:84705800-84711200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:84705800-84711600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:84705800-84711800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:84705800-84712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:84705800-84713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:84706000-84711400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:84706000-84711800	Weak transcription	Brain Anterior Caudate	brain
31	chr1:84706000-84711800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:84706000-84713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:84706000-84713400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:84706200-84708800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:84706200-84710600	Weak transcription	HUVEC	blood vessel
36	chr1:84706200-84711000	Weak transcription	Aorta	Aorta
37	chr1:84706200-84711200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:84706200-84711600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:84706200-84711800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:84706200-84713400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:84706600-84711600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:84706600-84713000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:84706800-84708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:84707000-84710200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:84707200-84709600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:84708200-84709400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:84708600-84711000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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