Variant report

Variant	rs3930079
Chromosome Location	chr1:149914683-149914684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
2	chr1:149912344..149915239-chr1:149936515..149940738,3	MCF-7	breast:
3	chr1:149913519..149915575-chr1:149932822..149935267,2	MCF-7	breast:
4	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
5	chr1:149912197..149914879-chr1:150040016..150042189,2	MCF-7	breast:
6	chr1:149849193..149852005-chr1:149913789..149916123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction

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

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

rs_ID	r²[population]
rs610976	0.85[YRI][hapmap]

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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909200-149915400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:149909200-149916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:149909400-149915000	Weak transcription	Fetal Brain Female	brain
4	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
5	chr1:149909600-149916400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:149909800-149916600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:149910200-149914800	Weak transcription	Thymus	Thymus
9	chr1:149910200-149914800	Weak transcription	Spleen	Spleen
10	chr1:149910200-149915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:149910200-149915800	Weak transcription	Esophagus	oesophagus
12	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:149911000-149916000	Weak transcription	Psoas Muscle	Psoas
14	chr1:149911400-149915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:149911400-149915200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:149911400-149915400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:149911400-149915400	Weak transcription	Right Ventricle	heart
18	chr1:149911400-149915600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:149911400-149915600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:149911400-149915600	Weak transcription	NHLF	lung
21	chr1:149911400-149915800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:149911400-149916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:149911400-149916200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:149911400-149917200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:149911400-149933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:149911600-149914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:149911600-149914800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:149911600-149914800	Weak transcription	Fetal Stomach	stomach
29	chr1:149911600-149914800	Weak transcription	HSMMtube	muscle
30	chr1:149911600-149915400	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:149911600-149915400	Weak transcription	GM12878-XiMat	blood
32	chr1:149911600-149915600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:149911600-149915600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:149911600-149915600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:149911600-149915800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:149911600-149916000	Weak transcription	Aorta	Aorta
37	chr1:149911600-149916600	Weak transcription	HSMM	muscle
38	chr1:149911800-149914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:149911800-149914800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:149911800-149914800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:149911800-149914800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:149911800-149915000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:149911800-149915400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:149911800-149915400	Weak transcription	Left Ventricle	heart
45	chr1:149911800-149915400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:149911800-149915600	Weak transcription	Lung	lung
47	chr1:149911800-149915600	Weak transcription	Ovary	ovary
48	chr1:149911800-149915600	Weak transcription	Pancreas	Pancrea
49	chr1:149911800-149915600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:149911800-149915800	Weak transcription	Colonic Mucosa	Colon

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