Variant report

Variant	rs12747748
Chromosome Location	chr1:173744046-173744047
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173743782..173745551-chr1:173748719..173750353,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	nsv825420	chr1:173743569-173744435	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727600-173744600	Weak transcription	HSMM	muscle
4	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
5	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
6	chr1:173728000-173744400	Weak transcription	NHLF	lung
7	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
10	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
11	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:173728800-173744200	Weak transcription	HMEC	breast
13	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:173728800-173744600	Weak transcription	Osteobl	bone
16	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
17	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
18	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
25	chr1:173729200-173744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:173729600-173752200	Weak transcription	A549	lung
27	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:173730000-173744200	Weak transcription	Fetal Kidney	kidney
29	chr1:173731000-173749000	Weak transcription	GM12878-XiMat	blood
30	chr1:173732800-173744800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:173734000-173744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:173734000-173744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:173734200-173744200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
35	chr1:173736000-173751200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:173736600-173751200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:173737200-173750400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:173739400-173751400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:173741400-173757400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:173741800-173745600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:173741800-173746200	Strong transcription	Primary B cells from cord blood	blood
44	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
46	chr1:173742200-173745000	Strong transcription	Fetal Intestine Small	intestine
47	chr1:173742200-173745200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:173742200-173747200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:173742800-173745800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:173742800-173754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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