Variant report

Variant	rs7302664
Chromosome Location	chr12:4664821-4664822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4664462..4667424-chr12:4914482..4915996,2	K562	blood:
2	chr12:4664294..4665889-chr12:4669852..4671734,2	K562	blood:
3	chr12:4656468..4659385-chr12:4664305..4666078,2	K562	blood:
4	chr12:4664388..4668244-chr12:4668539..4671250,3	K562	blood:

Variant related genes	Relation type
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10492053	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12818485	1.00[ASN][1000 genomes]
rs12831479	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35467270	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35711623	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924298	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857065	0.80[AFR][1000 genomes]
rs57308816	0.82[AFR][1000 genomes]
rs71459907	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[CEU][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061919	0.80[AFR][1000 genomes]
rs74061923	0.80[AFR][1000 genomes]
rs7955370	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962626	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
2	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
4	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
6	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
9	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:4649600-4666200	Weak transcription	NHLF	lung
18	chr12:4649600-4671000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:4649600-4671000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:4649600-4671000	Weak transcription	Fetal Kidney	kidney
21	chr12:4649600-4671200	Weak transcription	NHEK	skin
22	chr12:4650200-4668600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:4650200-4670600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:4650400-4670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:4650400-4670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:4651000-4670400	Strong transcription	Fetal Thymus	thymus
27	chr12:4651200-4668200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:4651400-4666600	Strong transcription	A549	lung
29	chr12:4651600-4668400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:4651800-4666200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:4652000-4671800	Strong transcription	Dnd41	blood
32	chr12:4654400-4666000	Weak transcription	HMEC	breast
33	chr12:4654400-4671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:4655400-4666200	Weak transcription	Aorta	Aorta
35	chr12:4655400-4671000	Weak transcription	NH-A	brain
36	chr12:4655600-4671000	Weak transcription	Osteobl	bone
37	chr12:4656600-4668600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:4657000-4671000	Weak transcription	NHDF-Ad	bronchial
39	chr12:4657800-4671000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:4658000-4671000	Weak transcription	Fetal Heart	heart
41	chr12:4658200-4666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:4658400-4671600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:4659000-4671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:4659200-4670000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:4659400-4670200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:4659400-4671200	Weak transcription	Primary T cells from cord blood	blood
47	chr12:4659800-4671000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:4659800-4671000	Weak transcription	K562	blood
49	chr12:4660000-4671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:4660000-4671400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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