Variant report

Variant	rs6715038
Chromosome Location	chr2:153200831-153200832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153197976..153200865-chr2:153202322..153203907,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11687067	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs56220036	0.80[AFR][1000 genomes]
rs6433983	0.88[AMR][1000 genomes]
rs6734534	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6739954	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6754723	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6757784	0.86[AMR][1000 genomes]
rs6757877	0.84[AMR][1000 genomes]
rs7565316	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194000-153201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:153194000-153203600	Weak transcription	Osteobl	bone
4	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
5	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
6	chr2:153194400-153201200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:153194600-153204200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
10	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:153194600-153206400	Weak transcription	Lung	lung
13	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:153194600-153214600	Weak transcription	Gastric	stomach
17	chr2:153194800-153203800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:153195000-153204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:153196200-153204200	Weak transcription	Fetal Brain Female	brain
21	chr2:153196600-153202400	Strong transcription	NHEK	skin
22	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
23	chr2:153196800-153203200	Weak transcription	HMEC	breast
24	chr2:153197000-153201600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:153197000-153207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:153197800-153204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:153198000-153205800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:153198000-153206200	Weak transcription	Fetal Brain Male	brain
30	chr2:153198000-153206200	Genic enhancers	HepG2	liver
31	chr2:153198000-153207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:153198600-153203400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
35	chr2:153199000-153201600	Strong transcription	Hela-S3	cervix
36	chr2:153199200-153201200	Weak transcription	Fetal Lung	lung
37	chr2:153199200-153201400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:153199400-153202000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:153199600-153201000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:153199600-153201000	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
43	chr2:153200200-153202600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:153200400-153202200	Enhancers	Brain Anterior Caudate	brain
45	chr2:153200400-153202400	Enhancers	Brain Substantia Nigra	brain
46	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:153200600-153201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:153200600-153201200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:153200600-153201400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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