Variant report

Variant	rs61764371
Chromosome Location	chr12:25359577-25359578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25357761..25359956-chr12:25367991..25370766,2	K562	blood:
2	chr12:25359301..25361525-chr12:25535610..25537656,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10400492	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11047859	1.00[EUR][1000 genomes]
rs11047869	1.00[EUR][1000 genomes]
rs11047898	1.00[EUR][1000 genomes]
rs11829456	1.00[EUR][1000 genomes]
rs11833781	1.00[EUR][1000 genomes]
rs11835872	1.00[EUR][1000 genomes]
rs12307064	1.00[EUR][1000 genomes]
rs12313763	1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	1.00[EUR][1000 genomes]
rs61759613	1.00[EUR][1000 genomes]
rs61759631	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61761086	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61761090	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61761092	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61761151	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61762363	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61764377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304274	1.00[EUR][1000 genomes]
rs7953861	1.00[EUR][1000 genomes]
rs7972282	1.00[EUR][1000 genomes]
rs7978771	1.00[EUR][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	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1048631	chr12:25353517-25378661	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv898923	chr12:25357680-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv898924	chr12:25357680-25398972	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
4	chr12:25348800-25360200	Weak transcription	Esophagus	oesophagus
5	chr12:25349000-25360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:25349000-25360000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:25349000-25360400	Weak transcription	Psoas Muscle	Psoas
8	chr12:25349000-25369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:25349000-25372800	Weak transcription	Aorta	Aorta
10	chr12:25349000-25374200	Weak transcription	Lung	lung
11	chr12:25349000-25386000	Weak transcription	Left Ventricle	heart
12	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
13	chr12:25349200-25360800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:25349200-25362400	Weak transcription	Colonic Mucosa	Colon
15	chr12:25349200-25363200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:25349200-25363400	Weak transcription	Stomach Mucosa	stomach
17	chr12:25349400-25359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:25349400-25367400	Weak transcription	Fetal Stomach	stomach
19	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:25349400-25388600	Weak transcription	NHLF	lung
21	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
24	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
25	chr12:25349600-25360000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:25349600-25360000	Weak transcription	Fetal Brain Female	brain
27	chr12:25349600-25360800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:25349600-25364600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:25349800-25359800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:25349800-25360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:25349800-25360000	Weak transcription	Thymus	Thymus
38	chr12:25349800-25360200	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:25349800-25360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:25349800-25360400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:25349800-25379200	Weak transcription	Brain Anterior Caudate	brain
42	chr12:25349800-25386200	Weak transcription	Hela-S3	cervix
43	chr12:25349800-25390200	Weak transcription	K562	blood
44	chr12:25350000-25372600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:25350000-25402800	Weak transcription	Ovary	ovary
46	chr12:25350200-25359600	Weak transcription	GM12878-XiMat	blood
47	chr12:25353200-25378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:25354200-25359800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:25354400-25359800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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