Variant report

Variant	rs575433315
Chromosome Location	chr2:173941160-173941161
allele	C/G
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	chr2:173939442..173941828-chr2:174218952..174221644,4	K562	blood:
2	chr2:173939873..173942564-chr2:174828139..174830300,2	K562	blood:
3	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
4	chr19:41119049..41119660-chr2:173940484..173941219,2	HCT-116	colon:
5	chr2:173939516..173941828-chr2:174218952..174221644,5	K562	blood:
6	chr2:173940670..173941204-chr9:15422600..15423282,2	Hela-S3	cervix:
7	chr2:173925105..173930317-chr2:173940081..173942061,4	MCF-7	breast:
8	chr2:173939725..173941702-chr2:174219358..174221001,2	MCF-7	breast:
9	chr2:173939894..173941691-chr2:174070697..174073381,2	K562	blood:
10	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction
ENSG00000164975	Chromatin interaction
ENSG00000144354	Chromatin interaction
ENSG00000238133	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000265709	Chromatin interaction
ENSG00000236391	Chromatin interaction
ENSG00000172845	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3371931	chr2:173938506-173943004	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3410281	chr2:173939731-173942579	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3422715	chr2:173940006-173942054	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173940000-173941800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:173940000-173941800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:173940000-173941800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:173940000-173941800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:173940000-173941800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:173940000-173941800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:173940000-173941800	Active TSS	NH-A	brain
8	chr2:173940000-173942000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:173940000-173942000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr2:173940000-173942000	Active TSS	Brain Angular Gyrus	brain
11	chr2:173940000-173942000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:173940000-173942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:173940000-173942200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:173940000-173942200	Active TSS	Brain Anterior Caudate	brain
15	chr2:173940000-173942200	Active TSS	HSMMtube	muscle
16	chr2:173940000-173942600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:173940000-173942600	Active TSS	Aorta	Aorta
18	chr2:173940000-173942800	Active TSS	Brain Substantia Nigra	brain
19	chr2:173940000-173942800	Active TSS	Ovary	ovary
20	chr2:173940000-173943400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:173940200-173941200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:173940200-173941200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:173940200-173941200	Active TSS	Brain Cingulate Gyrus	brain
24	chr2:173940200-173941200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:173940200-173941400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:173940200-173941400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:173940200-173941600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:173940200-173941600	Active TSS	Gastric	stomach
29	chr2:173940200-173941600	Active TSS	Lung	lung
30	chr2:173940200-173941600	Active TSS	Spleen	Spleen
31	chr2:173940200-173941800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:173940200-173941800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:173940200-173941800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:173940200-173941800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:173940200-173941800	Active TSS	Fetal Kidney	kidney
36	chr2:173940200-173941800	Active TSS	Fetal Lung	lung
37	chr2:173940200-173941800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:173940200-173941800	Bivalent/Poised TSS	HepG2	liver
39	chr2:173940200-173942000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:173940200-173942000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:173940200-173942000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:173940200-173942000	Active TSS	Colonic Mucosa	Colon
43	chr2:173940200-173942000	Active TSS	Esophagus	oesophagus
44	chr2:173940200-173942000	Active TSS	Left Ventricle	heart
45	chr2:173940200-173942000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr2:173940200-173942000	Active TSS	Small Intestine	intestine
47	chr2:173940200-173942000	Active TSS	Stomach Mucosa	stomach
48	chr2:173940200-173942200	Active TSS	Primary T cells from cord blood	blood
49	chr2:173940200-173942200	Active TSS	Duodenum Mucosa	Duodenum
50	chr2:173940200-173942200	Active TSS	HSMM	muscle

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