Variant report

Variant	rs549362593
Chromosome Location	chr3:156879377-156879378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156799577..156801238-chr3:156877640..156879746,2	K562	blood:
2	chr3:156270417..156272669-chr3:156876892..156879496,3	MCF-7	breast:
3	chr3:156574840..156576820-chr3:156878938..156880728,2	K562	blood:
4	chr3:156390967..156393612-chr3:156877452..156879722,5	K562	blood:
5	chr3:156533566..156537799-chr3:156875553..156879495,5	MCF-7	breast:
6	chr3:156391251..156395598-chr3:156875832..156879722,8	K562	blood:
7	chr3:156542707..156546513-chr3:156875626..156880471,4	K562	blood:
8	chr3:156390449..156395705-chr3:156876136..156879645,10	MCF-7	breast:
9	chr3:156877990..156879497-chr6:26155874..26158713,2	MCF-7	breast:
10	chr3:156876658..156879378-chr3:156891661..156893506,34	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000241544	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000222675	Chromatin interaction

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	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv965226	chr3:156878848-156881756	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156877000-156879400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr3:156877000-156879600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:156878200-156879400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:156878200-156879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:156878600-156879400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:156878600-156879400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr3:156878600-156879400	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:156878600-156879400	Flanking Active TSS	NHEK	skin
9	chr3:156878600-156880600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:156878600-156881600	Weak transcription	Lung	lung
11	chr3:156878600-156882000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:156878600-156882000	Weak transcription	Gastric	stomach
13	chr3:156878800-156879400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:156878800-156879400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:156878800-156879400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr3:156878800-156879400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:156878800-156879400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:156878800-156879400	Flanking Active TSS	K562	blood
19	chr3:156878800-156879400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:156878800-156879600	Weak transcription	Spleen	Spleen
21	chr3:156879000-156879400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:156879000-156879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:156879000-156879400	Enhancers	Fetal Heart	heart
24	chr3:156879000-156879800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:156879000-156879800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:156879000-156879800	Weak transcription	Small Intestine	intestine
27	chr3:156879000-156880600	Weak transcription	Pancreas	Pancrea
28	chr3:156879000-156881600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:156879000-156883200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:156879000-156885600	Weak transcription	Psoas Muscle	Psoas
31	chr3:156879000-156891800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:156879000-156892000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:156879200-156879400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:156879200-156879400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:156879200-156879400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:156879200-156879400	Enhancers	Primary T cells from cord blood	blood
37	chr3:156879200-156879400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:156879200-156879400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:156879200-156879400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr3:156879200-156879400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:156879200-156879400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:156879200-156879400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:156879200-156879400	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:156879200-156879400	Enhancers	Fetal Lung	lung
45	chr3:156879200-156879400	Enhancers	Fetal Muscle Leg	muscle
46	chr3:156879200-156879400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr3:156879200-156879400	Enhancers	Dnd41	blood
48	chr3:156879200-156879400	Enhancers	HMEC	breast
49	chr3:156879200-156879400	Enhancers	HSMM	muscle
50	chr3:156879200-156879400	Enhancers	HSMMtube	muscle

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