Variant report

Variant	rs3008182
Chromosome Location	chr1:226372766-226372767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
2	chr1:226295550..226298881-chr1:226372449..226374303,3	K562	blood:
3	chr1:226343198..226345651-chr1:226370784..226374218,4	K562	blood:
4	chr1:226338462..226340650-chr1:226371216..226373411,2	K562	blood:
5	chr1:226365447..226367440-chr1:226372649..226374365,2	K562	blood:
6	chr1:226343233..226345651-chr1:226372264..226374218,2	K562	blood:

Variant related genes	Relation type
ENSG00000270598	Chromatin interaction

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

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

rs_ID	r²[population]
rs2615804	1.00[AFR][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
5	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
8	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:226354200-226373000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:226358800-226373400	Weak transcription	Gastric	stomach
11	chr1:226361000-226372800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:226364000-226373800	Weak transcription	Spleen	Spleen
13	chr1:226368200-226373000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:226368600-226372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:226368800-226372800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:226369200-226372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:226369600-226373400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:226369800-226372800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:226369800-226373200	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:226370200-226372800	Weak transcription	Fetal Brain Male	brain
21	chr1:226370200-226373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226370400-226372800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:226370400-226373000	Weak transcription	Pancreas	Pancrea
24	chr1:226370400-226373000	Weak transcription	Right Ventricle	heart
25	chr1:226370400-226373200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:226370600-226372800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:226370600-226372800	Enhancers	Primary B cells from cord blood	blood
28	chr1:226370600-226373000	Weak transcription	Fetal Thymus	thymus
29	chr1:226370600-226373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:226370600-226373400	Weak transcription	Lung	lung
31	chr1:226370800-226372800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:226370800-226372800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:226371200-226373000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:226371600-226372800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:226371600-226373000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:226371800-226372800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:226371800-226372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:226371800-226372800	Enhancers	Liver	Liver
39	chr1:226371800-226372800	Genic enhancers	Fetal Muscle Leg	muscle
40	chr1:226371800-226372800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:226371800-226372800	Genic enhancers	K562	blood
42	chr1:226371800-226373000	Enhancers	Colon Smooth Muscle	Colon
43	chr1:226371800-226373000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:226371800-226373200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:226372000-226372800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:226372000-226372800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:226372000-226372800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:226372000-226372800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:226372000-226372800	Enhancers	Brain Substantia Nigra	brain
50	chr1:226372000-226372800	Enhancers	Colonic Mucosa	Colon

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