Variant report

Variant	rs72982270
Chromosome Location	chr6:134289116-134289117
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134276287..134278466-chr6:134288025..134290579,2	MCF-7	breast:
2	chr6:134271776..134274433-chr6:134288176..134289827,2	K562	blood:
3	chr6:134258577..134261545-chr6:134287191..134289671,3	K562	blood:
4	chr6:134273384..134275623-chr6:134288051..134290923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs6910014	1.00[EUR][1000 genomes]
rs72982237	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982240	0.92[EUR][1000 genomes]
rs72982241	1.00[EUR][1000 genomes]
rs72982249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982252	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982261	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72982263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982291	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72982292	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134275400-134289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:134276200-134299000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
4	chr6:134276400-134290800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:134276400-134291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:134276600-134293000	Weak transcription	Fetal Lung	lung
7	chr6:134276600-134302800	Weak transcription	Fetal Kidney	kidney
8	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
9	chr6:134278000-134303600	Weak transcription	Dnd41	blood
10	chr6:134279400-134298800	Weak transcription	Psoas Muscle	Psoas
11	chr6:134279800-134294200	Weak transcription	Primary T cells from cord blood	blood
12	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:134280600-134293000	Weak transcription	Liver	Liver
14	chr6:134280600-134312200	Weak transcription	Lung	lung
15	chr6:134281000-134294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:134281400-134289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:134281400-134298800	Weak transcription	Ovary	ovary
18	chr6:134282000-134298800	Weak transcription	Gastric	stomach
19	chr6:134282400-134289200	Genic enhancers	K562	blood
20	chr6:134282600-134302000	Weak transcription	Placenta	Placenta
21	chr6:134283000-134291000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:134283000-134294200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:134283200-134289800	Weak transcription	Right Atrium	heart
24	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:134283400-134289800	Weak transcription	Spleen	Spleen
26	chr6:134283400-134290800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:134283400-134293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:134283600-134290400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:134283600-134290800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:134283600-134290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:134283600-134290800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:134284000-134290800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:134286800-134292400	Weak transcription	Fetal Brain Male	brain
35	chr6:134286800-134293800	Weak transcription	Fetal Brain Female	brain
36	chr6:134286800-134299000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:134287000-134289200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:134287200-134291800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:134287400-134290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:134287400-134290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:134287400-134291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:134287800-134290000	Enhancers	NHDF-Ad	bronchial
44	chr6:134287800-134293600	Weak transcription	Brain Germinal Matrix	brain
45	chr6:134288000-134289600	Enhancers	NHLF	lung
46	chr6:134288000-134290000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:134288200-134289200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:134288200-134289600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:134288200-134289600	Enhancers	HMEC	breast
50	chr6:134288200-134289600	Enhancers	NH-A	brain

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