Variant report

Variant	rs57974651
Chromosome Location	chr1:150796508-150796509
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	chr1:150794318..150797920-chr1:150799391..150802153,4	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16832595	1.00[AMR][1000 genomes]
rs16841689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60845143	1.00[AMR][1000 genomes]
rs72992007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992044	1.00[AMR][1000 genomes]
rs73008844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
2	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:150783000-150797000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:150783200-150797000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:150783200-150809800	Strong transcription	Fetal Thymus	thymus
10	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:150784000-150802000	Strong transcription	Fetal Lung	lung
13	chr1:150785800-150806400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:150785800-150812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:150786000-150808600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:150788400-150808000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr1:150788400-150809800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:150788400-150812200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:150788800-150797200	Strong transcription	HUVEC	blood vessel
20	chr1:150789400-150801000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:150789600-150798000	Weak transcription	Stomach Mucosa	stomach
22	chr1:150789600-150801000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:150789800-150798800	Weak transcription	A549	lung
24	chr1:150790000-150799800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:150790000-150801400	Weak transcription	Fetal Brain Male	brain
26	chr1:150790000-150804600	Weak transcription	Pancreas	Pancrea
27	chr1:150790600-150798200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:150790600-150801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:150790600-150802400	Weak transcription	Esophagus	oesophagus
30	chr1:150790800-150811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:150791200-150806600	Weak transcription	Small Intestine	intestine
32	chr1:150791800-150809000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:150792200-150814800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:150792400-150801800	Strong transcription	Colon Smooth Muscle	Colon
35	chr1:150792600-150803200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:150792600-150815400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:150792800-150796800	Strong transcription	Brain Germinal Matrix	brain
38	chr1:150792800-150812400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:150793000-150799000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:150793000-150816400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
42	chr1:150793600-150815800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:150793800-150813800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:150794000-150797400	Weak transcription	HSMM	muscle
45	chr1:150794000-150797800	Weak transcription	HMEC	breast
46	chr1:150794000-150798600	Strong transcription	Liver	Liver
47	chr1:150794000-150800000	Strong transcription	Fetal Stomach	stomach
48	chr1:150794000-150800800	Weak transcription	K562	blood
49	chr1:150794000-150805800	Strong transcription	Osteobl	bone
50	chr1:150794000-150809600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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