Variant report

Variant	rs61403293
Chromosome Location	chr2:33441234-33441235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33369700..33371935-chr2:33440247..33441794,2	K562	blood:
2	chr2:33440018..33441970-chr2:33445005..33447288,2	K562	blood:
3	chr2:33433433..33434972-chr2:33439448..33441761,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs218177	1.00[ASN][1000 genomes]
rs218180	1.00[ASN][1000 genomes]
rs218181	1.00[ASN][1000 genomes]
rs218184	1.00[ASN][1000 genomes]
rs218224	1.00[ASN][1000 genomes]
rs219069	1.00[ASN][1000 genomes]
rs219083	1.00[ASN][1000 genomes]
rs219087	1.00[ASN][1000 genomes]
rs219089	1.00[ASN][1000 genomes]
rs219095	1.00[ASN][1000 genomes]
rs219104	1.00[ASN][1000 genomes]
rs219105	1.00[ASN][1000 genomes]
rs219123	1.00[ASN][1000 genomes]
rs368929	1.00[ASN][1000 genomes]
rs397997	1.00[ASN][1000 genomes]
rs425708	1.00[ASN][1000 genomes]
rs439973	1.00[ASN][1000 genomes]
rs448072	1.00[ASN][1000 genomes]
rs542631	1.00[ASN][1000 genomes]
rs59846966	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858032	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420043	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
4	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:33434200-33442200	Enhancers	HUVEC	blood vessel
7	chr2:33435800-33444400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:33436400-33442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:33436600-33441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:33436600-33444200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:33436800-33443800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33437200-33443400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:33437400-33444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:33437600-33441600	Weak transcription	Liver	Liver
16	chr2:33437800-33442200	Enhancers	NH-A	brain
17	chr2:33437800-33444400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:33437800-33444600	Weak transcription	Hela-S3	cervix
19	chr2:33437800-33445200	Weak transcription	Fetal Kidney	kidney
20	chr2:33438000-33443000	Enhancers	A549	lung
21	chr2:33438200-33441600	Weak transcription	Esophagus	oesophagus
22	chr2:33439000-33442000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33439200-33442800	Enhancers	Left Ventricle	heart
24	chr2:33439400-33442200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:33439400-33442400	Enhancers	HMEC	breast
26	chr2:33439600-33442400	Enhancers	NHDF-Ad	bronchial
27	chr2:33439600-33442800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:33439800-33441600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:33439800-33441600	Weak transcription	Pancreas	Pancrea
30	chr2:33439800-33441600	Weak transcription	Right Ventricle	heart
31	chr2:33439800-33441800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:33439800-33442200	Enhancers	Fetal Heart	heart
33	chr2:33439800-33442800	Enhancers	Osteobl	bone
34	chr2:33439800-33444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:33440000-33441400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:33440000-33441400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:33440000-33441600	Weak transcription	Fetal Lung	lung
38	chr2:33440000-33442200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:33440000-33442800	Enhancers	NHEK	skin
40	chr2:33440000-33444400	Weak transcription	K562	blood
41	chr2:33440200-33442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:33440400-33441800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:33440400-33442200	Enhancers	Lung	lung
44	chr2:33440400-33446000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:33440600-33442000	Enhancers	Aorta	Aorta
46	chr2:33440800-33441400	Weak transcription	HSMM	muscle
47	chr2:33440800-33441600	Weak transcription	Ovary	ovary
48	chr2:33440800-33441600	Weak transcription	Right Atrium	heart
49	chr2:33440800-33442000	Genic enhancers	NHLF	lung
50	chr2:33440800-33447000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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