Variant report

Variant	rs2304556
Chromosome Location	chr2:153473794-153473795
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:153473606-153473806	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr2:153473746-153473934	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153471594..153474219-chr2:153474436..153476371,2	K562	blood:
2	chr2:153032229..153034245-chr2:153472883..153475480,2	MCF-7	breast:

Variant related genes	Relation type
FMNL2	TF binding region
ENSG00000115145	Chromatin interaction
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10172024	0.84[CHB][hapmap]
rs1036526	0.89[CHB][hapmap]
rs1065266	0.90[CHB][hapmap]
rs10931229	0.90[CHB][hapmap]
rs1128804	0.84[CHB][hapmap]
rs11899051	0.88[CHB][hapmap]
rs12477881	0.84[CHB][hapmap]
rs12621561	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12621715	0.80[CHB][hapmap]
rs12693415	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13010731	0.84[CHB][hapmap]
rs13031469	0.89[CHB][hapmap]
rs13417781	0.85[CHB][hapmap]
rs13419068	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs1370498	0.90[CHB][hapmap]
rs1437678	0.90[CHB][hapmap]
rs16831548	0.90[CHB][hapmap]
rs16831740	0.84[CHB][hapmap]
rs17328734	0.84[CHB][hapmap]
rs17400645	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs1962313	0.80[CHB][hapmap];0.82[CHD][hapmap]
rs1986743	0.80[CHB][hapmap]
rs1992146	0.90[CHB][hapmap]
rs2118377	0.90[CHB][hapmap]
rs2346539	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2346540	0.81[ASN][1000 genomes]
rs2346542	0.84[CHB][hapmap]
rs2346543	0.80[CHB][hapmap]
rs2346550	0.84[CHB][hapmap]
rs3171980	0.90[CHB][hapmap]
rs3748939	0.84[CHB][hapmap]
rs3762503	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs3762507	0.90[CHB][hapmap]
rs4233660	0.80[CHB][hapmap]
rs4267470	0.80[CHB][hapmap]
rs4664121	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4664122	0.90[CHB][hapmap]
rs4664601	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs4664604	0.84[CHB][hapmap]
rs4664605	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs4664606	0.80[CHB][hapmap]
rs4664607	0.84[CHB][hapmap]
rs4664610	0.80[CHB][hapmap]
rs6434128	0.95[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs6434161	0.84[CHB][hapmap]
rs6434162	0.84[CHB][hapmap]
rs6746079	0.81[ASN][1000 genomes]
rs72871191	0.81[ASN][1000 genomes]
rs72872607	0.81[ASN][1000 genomes]
rs7556673	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7560393	0.84[CHB][hapmap]
rs7576847	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs7582253	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7593347	0.94[CHB][hapmap]
rs7596408	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7599946	0.80[CHB][hapmap]
rs7608603	0.84[JPT][hapmap]
rs9288121	0.90[CHB][hapmap]
rs9288125	0.90[CHB][hapmap]
rs9789505	0.81[ASN][1000 genomes]
rs9789521	0.90[CHB][hapmap];0.85[CHD][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
2	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:153451200-153476200	Weak transcription	Gastric	stomach
4	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:153462200-153474800	Weak transcription	Fetal Intestine Small	intestine
7	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
8	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:153464600-153480000	Strong transcription	NHEK	skin
12	chr2:153465600-153474000	Weak transcription	Fetal Brain Male	brain
13	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:153468000-153474200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:153468000-153480000	Strong transcription	HepG2	liver
16	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:153468200-153477800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:153468600-153479200	Strong transcription	HMEC	breast
21	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
23	chr2:153468800-153475000	Weak transcription	Hela-S3	cervix
24	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:153468800-153492000	Weak transcription	Liver	Liver
26	chr2:153469000-153473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:153469000-153474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:153469000-153475600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
30	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
31	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
32	chr2:153469200-153473800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:153469200-153475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
35	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
36	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:153469600-153475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:153469600-153479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
40	chr2:153469600-153496800	Weak transcription	HSMM	muscle
41	chr2:153469800-153479000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:153470400-153478800	Strong transcription	Left Ventricle	heart
43	chr2:153470400-153483600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:153470600-153480400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:153470600-153483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:153470800-153474200	Weak transcription	NHDF-Ad	bronchial
47	chr2:153470800-153474600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:153471000-153474800	Weak transcription	GM12878-XiMat	blood
49	chr2:153471000-153475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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