Variant report

Variant	rs59195210
Chromosome Location	chr7:139413179-139413180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139408971..139413688-chr7:139413768..139417072,5	K562	blood:
2	chr7:139412716..139416126-chr7:139473594..139478833,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59659246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475966	1.00[AMR][1000 genomes]
rs73475971	1.00[AMR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139403000-139415200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:139403200-139413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:139403400-139413200	Weak transcription	Placenta	Placenta
4	chr7:139403400-139414600	Weak transcription	A549	lung
5	chr7:139403600-139413600	Weak transcription	HUVEC	blood vessel
6	chr7:139404000-139414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:139404200-139414600	Weak transcription	Fetal Kidney	kidney
8	chr7:139404400-139415200	Weak transcription	K562	blood
9	chr7:139404400-139417000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:139404600-139415000	Weak transcription	Hela-S3	cervix
11	chr7:139404600-139417400	Strong transcription	Primary T cells from cord blood	blood
12	chr7:139404800-139414000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:139405000-139414400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:139405200-139413400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:139405600-139414800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:139406200-139413800	Weak transcription	HSMMtube	muscle
17	chr7:139406200-139414400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:139406400-139413200	Weak transcription	Fetal Lung	lung
19	chr7:139406400-139413800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:139406600-139415000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:139406800-139415000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:139407400-139415400	Weak transcription	Dnd41	blood
23	chr7:139407600-139413800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:139407600-139420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:139407800-139413600	Weak transcription	Fetal Brain Female	brain
26	chr7:139408800-139414800	Weak transcription	NHEK	skin
27	chr7:139409000-139413800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:139409000-139413800	Weak transcription	Aorta	Aorta
29	chr7:139409200-139413600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:139409400-139413400	Weak transcription	Thymus	Thymus
31	chr7:139409400-139414600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:139409800-139413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:139409800-139420000	Weak transcription	Small Intestine	intestine
34	chr7:139410200-139414000	Weak transcription	NH-A	brain
35	chr7:139410200-139416800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:139410400-139413800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:139410400-139414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:139410400-139414400	Weak transcription	Ovary	ovary
39	chr7:139410600-139413800	Weak transcription	NHDF-Ad	bronchial
40	chr7:139411200-139414400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:139411200-139414800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:139411400-139413800	Strong transcription	Fetal Stomach	stomach
43	chr7:139411400-139414600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:139411400-139414600	Enhancers	Brain Anterior Caudate	brain
45	chr7:139411400-139414800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:139411400-139414800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:139411600-139413200	Enhancers	Pancreas	Pancrea
48	chr7:139411600-139413200	Genic enhancers	HepG2	liver
49	chr7:139411600-139413400	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:139411600-139413600	Enhancers	Skeletal Muscle Female	skeletal muscle

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