Variant report

Variant	rs12707388
Chromosome Location	chr7:138189981-138189982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138185727..138188937-chr7:138189429..138192088,3	K562	blood:
2	chr7:138178116..138180071-chr7:138187810..138190378,3	K562	blood:
3	chr7:138145137..138147359-chr7:138189879..138192079,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10236035	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10271000	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10272245	0.86[CEU][hapmap];0.93[YRI][hapmap]
rs10279876	1.00[ASN][1000 genomes]
rs11761566	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11763093	1.00[ASN][1000 genomes]
rs11773577	1.00[ASN][1000 genomes]
rs12707387	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230953	1.00[ASN][1000 genomes]
rs13231375	1.00[ASN][1000 genomes]
rs13242427	1.00[ASN][1000 genomes]
rs2353353	0.80[EUR][1000 genomes]
rs3213902	0.92[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34718165	1.00[ASN][1000 genomes]
rs35558871	1.00[ASN][1000 genomes]
rs35674497	1.00[ASN][1000 genomes]
rs4535683	0.85[EUR][1000 genomes]
rs55918517	1.00[ASN][1000 genomes]
rs6467774	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6467777	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467779	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6467781	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67586210	1.00[ASN][1000 genomes]
rs6946420	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6962037	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6970145	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782453	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794786	0.84[EUR][1000 genomes]
rs7799818	1.00[ASN][1000 genomes]
rs7803989	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811152	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
3	chr7:138164000-138191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:138164000-138199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:138165000-138192000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:138168000-138196200	Weak transcription	Left Ventricle	heart
7	chr7:138169000-138190200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:138175200-138201200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:138176600-138190200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:138176600-138203600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:138177000-138190200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
13	chr7:138177600-138194600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:138178600-138191400	Weak transcription	Right Atrium	heart
15	chr7:138178600-138212200	Weak transcription	NHLF	lung
16	chr7:138180200-138204200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:138182200-138196200	Weak transcription	Spleen	Spleen
18	chr7:138183000-138196400	Weak transcription	Fetal Lung	lung
19	chr7:138183000-138203600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:138184400-138190200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:138184400-138194600	Weak transcription	Gastric	stomach
22	chr7:138184400-138196200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:138184400-138196200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:138184400-138196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:138184400-138196400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:138184400-138197000	Weak transcription	Aorta	Aorta
27	chr7:138184400-138198600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:138184600-138190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:138184600-138190400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:138184600-138191400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:138184600-138191400	Weak transcription	Stomach Mucosa	stomach
32	chr7:138184600-138194600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:138184600-138196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:138184800-138196200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:138184800-138204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:138185000-138190000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:138185000-138191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:138185000-138194800	Weak transcription	GM12878-XiMat	blood
39	chr7:138185000-138198600	Weak transcription	Fetal Heart	heart
40	chr7:138186000-138196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:138187200-138190200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:138187200-138196400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:138187200-138196400	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:138187400-138192000	Weak transcription	Ovary	ovary
46	chr7:138187400-138196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:138187400-138197000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:138187400-138203800	Weak transcription	Psoas Muscle	Psoas
49	chr7:138187600-138194800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:138187600-138197200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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