Variant report

Variant	rs12030974
Chromosome Location	chr1:151798295-151798296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151789925..151792025-chr1:151796878..151798485,2	K562	blood:
2	chr1:151797661..151799547-chr1:151812000..151814982,2	MCF-7	breast:
3	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
4	chr1:151797506..151800180-chr1:152018704..152020909,2	MCF-7	breast:
5	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201134	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000225556	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs949969	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][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	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:151787400-151800000	Weak transcription	Spleen	Spleen
3	chr1:151790000-151799000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:151790200-151801600	Weak transcription	Right Atrium	heart
5	chr1:151791000-151800600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:151793000-151800600	Weak transcription	Lung	lung
7	chr1:151793400-151800200	Weak transcription	Gastric	stomach
8	chr1:151793600-151800800	Weak transcription	Stomach Mucosa	stomach
9	chr1:151793600-151801000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:151794000-151798400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:151794000-151798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:151794600-151798800	Weak transcription	Hela-S3	cervix
13	chr1:151795000-151798600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:151795200-151799800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:151795400-151800400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:151795400-151800600	Weak transcription	GM12878-XiMat	blood
17	chr1:151795600-151801800	Genic enhancers	Liver	Liver
18	chr1:151796000-151800600	Weak transcription	Colonic Mucosa	Colon
19	chr1:151796000-151801000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:151796200-151801000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:151796200-151803600	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:151796400-151799400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:151796400-151800600	Enhancers	Primary T cells from cord blood	blood
24	chr1:151796800-151799200	Flanking Active TSS	Fetal Thymus	thymus
25	chr1:151796800-151799200	Flanking Active TSS	Dnd41	blood
26	chr1:151796800-151800600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:151797000-151803600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:151797200-151799000	Enhancers	Fetal Intestine Small	intestine
29	chr1:151797400-151798600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:151797600-151798400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:151797600-151798400	Active TSS	Esophagus	oesophagus
32	chr1:151797600-151798600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:151797600-151798600	Enhancers	Fetal Lung	lung
34	chr1:151797600-151798800	Enhancers	Adipose Nuclei	Adipose
35	chr1:151797600-151798800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:151797600-151799000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:151797600-151799000	Enhancers	Fetal Intestine Large	intestine
38	chr1:151797600-151799000	Genic enhancers	Pancreas	Pancrea
39	chr1:151797600-151799000	Enhancers	Psoas Muscle	Psoas
40	chr1:151797600-151799200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:151797800-151798400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:151797800-151798400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:151797800-151798400	Enhancers	Brain Substantia Nigra	brain
44	chr1:151797800-151798600	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:151797800-151798600	Enhancers	Brain Germinal Matrix	brain
46	chr1:151797800-151798800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:151797800-151798800	Active TSS	Thymus	Thymus
48	chr1:151797800-151799000	Enhancers	Brain Anterior Caudate	brain
49	chr1:151797800-151799400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:151797800-151800800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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