Variant report

Variant	rs10192944
Chromosome Location	chr2:33445557-33445558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33294930..33295688-chr2:33444908..33445678,2	MCF-7	breast:
2	chr2:33440018..33441970-chr2:33445005..33447288,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048782	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10166821	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10179329	1.00[AMR][1000 genomes]
rs10184897	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10189539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192129	1.00[AMR][1000 genomes]
rs10202001	1.00[AMR][1000 genomes]
rs10211394	1.00[AMR][1000 genomes]
rs13398513	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13402045	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59286165	1.00[AMR][1000 genomes]
rs6543702	1.00[AMR][1000 genomes]
rs6727534	1.00[AMR][1000 genomes]
rs6729956	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740275	1.00[AMR][1000 genomes]
rs6742773	1.00[AMR][1000 genomes]
rs6745742	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6758391	1.00[AMR][1000 genomes]
rs72855789	1.00[AMR][1000 genomes]
rs9308933	0.83[YRI][hapmap];1.00[AMR][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:55 , 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	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
3	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:33440400-33446000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:33440800-33447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:33442000-33445600	Weak transcription	Aorta	Aorta
7	chr2:33442200-33445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:33442200-33447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:33442200-33447200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:33442600-33445800	Weak transcription	Right Ventricle	heart
11	chr2:33442600-33447600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:33442600-33452200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:33442600-33467600	Weak transcription	Ovary	ovary
14	chr2:33442800-33445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:33442800-33445600	Weak transcription	Right Atrium	heart
16	chr2:33442800-33446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:33442800-33446600	Weak transcription	Liver	Liver
18	chr2:33442800-33447200	Weak transcription	Left Ventricle	heart
19	chr2:33442800-33453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
21	chr2:33443800-33445600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:33444200-33445800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:33444200-33445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:33444200-33446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:33444200-33446000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:33444400-33445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:33444400-33445800	Flanking Active TSS	A549	lung
28	chr2:33444400-33446000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:33444400-33446000	Enhancers	NH-A	brain
30	chr2:33444400-33446400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:33444400-33446600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:33444400-33446600	Enhancers	K562	blood
33	chr2:33444600-33445800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33444600-33445800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:33444600-33446000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:33444600-33446000	Enhancers	Hela-S3	cervix
37	chr2:33444600-33446200	Enhancers	NHDF-Ad	bronchial
38	chr2:33444600-33446400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:33444600-33446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:33444800-33446400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:33444800-33446600	Enhancers	Fetal Heart	heart
42	chr2:33444800-33446600	Enhancers	Dnd41	blood
43	chr2:33444800-33446800	Enhancers	Fetal Lung	lung
44	chr2:33444800-33448400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:33444800-33448400	Enhancers	HMEC	breast
46	chr2:33445000-33445600	Enhancers	NHEK	skin
47	chr2:33445000-33445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:33445000-33446000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:33445000-33446000	Enhancers	Osteobl	bone
50	chr2:33445000-33446800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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