Variant report

Variant	rs925805
Chromosome Location	chr2:183944094-183944095
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183902000..183906390-chr2:183941845..183945087,6	MCF-7	breast:
2	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
3	chr2:183939801..183941684-chr2:183944000..183946021,2	K562	blood:
4	chr2:183942606..183944610-chr2:183988840..183990429,2	K562	blood:
5	chr2:183936424..183941841-chr2:183941943..183946520,8	K562	blood:
6	chr2:183942521..183944578-chr2:183980527..183982888,2	K562	blood:
7	chr2:183942219..183944106-chr2:183988840..183990406,2	K562	blood:
8	chr2:183902872..183905490-chr2:183940905..183944482,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000231203	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10165922	0.80[ASN][1000 genomes]
rs10170163	0.83[ASN][1000 genomes]
rs10174477	0.80[ASN][1000 genomes]
rs10183561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10200193	0.81[ASN][1000 genomes]
rs10460315	0.85[ASN][1000 genomes]
rs11692613	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12463411	0.85[ASN][1000 genomes]
rs12693331	0.92[ASN][1000 genomes]
rs13399265	0.85[ASN][1000 genomes]
rs13419900	0.80[ASN][1000 genomes]
rs16823717	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16823721	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16823967	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16823971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16823974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16823976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16824001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1812647	0.85[ASN][1000 genomes]
rs1882440	0.80[ASN][1000 genomes]
rs2138482	0.85[ASN][1000 genomes]
rs2138484	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2138485	0.90[ASN][1000 genomes]
rs2176228	0.82[ASN][1000 genomes]
rs2247840	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2368335	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2368354	0.84[ASN][1000 genomes]
rs2675117	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705714	0.87[ASN][1000 genomes]
rs2944346	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2952345	1.00[JPT][hapmap]
rs3748879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4597478	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4666607	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666885	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4666887	0.82[ASN][1000 genomes]
rs55942934	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56271556	0.98[ASN][1000 genomes]
rs59041013	0.98[ASN][1000 genomes]
rs61283216	0.98[ASN][1000 genomes]
rs61526412	0.98[ASN][1000 genomes]
rs6742203	0.92[ASN][1000 genomes]
rs73035651	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036601	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs867340	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183942600-183944400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:183942800-183944200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:183942800-183944200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:183942800-183944200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr2:183942800-183944200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:183942800-183944200	Active TSS	Brain Germinal Matrix	brain
7	chr2:183942800-183944200	Active TSS	Brain Hippocampus Middle	brain
8	chr2:183942800-183944200	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:183942800-183944200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr2:183942800-183944200	Active TSS	Fetal Stomach	stomach
11	chr2:183942800-183944200	Active TSS	A549	lung
12	chr2:183942800-183944400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:183942800-183944400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:183942800-183944400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:183942800-183944400	ZNF genes & repeats	Fetal Brain Male	brain
16	chr2:183942800-183944400	Active TSS	Fetal Kidney	kidney
17	chr2:183942800-183944400	Flanking Active TSS	HUVEC	blood vessel
18	chr2:183942800-183944600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:183942800-183944600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:183942800-183944600	Active TSS	Fetal Intestine Large	intestine
21	chr2:183942800-183944600	Active TSS	Fetal Intestine Small	intestine
22	chr2:183942800-183944600	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:183942800-183944600	Active TSS	K562	blood
24	chr2:183942800-183944800	Active TSS	Fetal Brain Female	brain
25	chr2:183942800-183944800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:183942800-183944800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:183942800-183945000	Active TSS	Brain Anterior Caudate	brain
28	chr2:183942800-183945000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:183943000-183944200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:183943000-183944200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:183943000-183944200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:183943000-183944200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:183943000-183944200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr2:183943000-183944200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr2:183943000-183944200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:183943000-183944200	Active TSS	Brain Cingulate Gyrus	brain
37	chr2:183943000-183944200	Active TSS	Esophagus	oesophagus
38	chr2:183943000-183944200	Active TSS	Fetal Heart	heart
39	chr2:183943000-183944200	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:183943000-183944200	Active TSS	Fetal Muscle Leg	muscle
41	chr2:183943000-183944200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:183943000-183944200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:183943000-183944200	Active TSS	Stomach Mucosa	stomach
44	chr2:183943000-183944200	Active TSS	HSMM	muscle
45	chr2:183943000-183944200	Active TSS	HSMMtube	muscle
46	chr2:183943000-183944400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:183943000-183944400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:183943000-183944400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:183943000-183944400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:183943000-183944400	Active TSS	Brain Substantia Nigra	brain

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