Variant report

Variant	rs12193624
Chromosome Location	chr6:144899294-144899295
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144893219..144895827-chr6:144896800..144899296,2	MCF-7	breast:
2	chr6:144896433..144898647-chr6:144899141..144902134,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11964955	1.00[EUR][1000 genomes]
rs17073872	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
2	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
6	chr6:144867400-144903800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:144872000-144903000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:144873000-144903200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:144873000-144903800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:144874000-144904200	Weak transcription	Placenta	Placenta
11	chr6:144877000-144903000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:144877000-144904200	Weak transcription	Fetal Stomach	stomach
13	chr6:144878000-144903400	Weak transcription	Fetal Brain Male	brain
14	chr6:144878600-144901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:144879200-144899800	Weak transcription	NHLF	lung
16	chr6:144879200-144904000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:144881800-144899600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:144881800-144900000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:144882000-144902800	Weak transcription	Fetal Heart	heart
21	chr6:144885400-144903800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:144885800-144943400	Weak transcription	Ovary	ovary
23	chr6:144888600-144903200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:144888800-144904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:144889200-144903000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:144891400-144900200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:144895200-144904000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:144895600-144902800	Strong transcription	Primary B cells from cord blood	blood
29	chr6:144895800-144901600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:144896000-144899400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:144896000-144899600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:144896000-144900000	Weak transcription	NHEK	skin
33	chr6:144896400-144901800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr6:144896400-144902200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:144896600-144903000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:144896600-144903200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:144896600-144903800	Weak transcription	Brain Anterior Caudate	brain
38	chr6:144896800-144903200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:144897000-144903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:144897400-144901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:144897400-144904000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:144897800-144899600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:144897800-144899800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:144897800-144900800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:144897800-144902000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:144897800-144902200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:144897800-144902200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:144897800-144902200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:144898000-144899600	Strong transcription	HUVEC	blood vessel
50	chr6:144898000-144899800	Strong transcription	Fetal Muscle Trunk	muscle

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