Variant report

Variant	rs71565393
Chromosome Location	chr6:33577823-33577824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33577318..33579921-chr6:33582665..33584246,2	K562	blood:
2	chr6:33576666..33582891-chr6:33586745..33591603,10	MCF-7	breast:
3	chr6:33577343..33579254-chr6:33589113..33591086,2	K562	blood:
4	chr6:33576269..33579262-chr6:33600060..33601906,2	MCF-7	breast:
5	chr6:33561930..33564001-chr6:33577360..33579939,2	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10456420	0.86[AFR][1000 genomes]
rs10947415	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10947418	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10947426	0.86[AFR][1000 genomes]
rs11755257	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11756772	0.83[AFR][1000 genomes]
rs11757379	1.00[AFR][1000 genomes]
rs11757612	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11758330	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12153870	0.86[AFR][1000 genomes]
rs12195409	0.86[AFR][1000 genomes]
rs12195707	0.86[AFR][1000 genomes]
rs12200154	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12204620	0.86[AFR][1000 genomes]
rs12204992	0.86[AFR][1000 genomes]
rs12205667	0.86[AFR][1000 genomes]
rs12206173	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12211490	0.86[AFR][1000 genomes]
rs12211554	0.86[AFR][1000 genomes]
rs12211565	0.86[AFR][1000 genomes]
rs12214476	0.86[AFR][1000 genomes]
rs12214669	0.86[AFR][1000 genomes]
rs12660955	0.86[AFR][1000 genomes]
rs13195171	1.00[AFR][1000 genomes]
rs13200063	0.86[AFR][1000 genomes]
rs13206228	0.86[AFR][1000 genomes]
rs13220421	0.86[AFR][1000 genomes]
rs2227925	1.00[AFR][1000 genomes]
rs2296749	0.86[AFR][1000 genomes]
rs34339105	0.86[AFR][1000 genomes]
rs34376580	0.91[EUR][1000 genomes]
rs34460651	0.86[AFR][1000 genomes]
rs34472165	0.86[AFR][1000 genomes]
rs34517899	0.86[AFR][1000 genomes]
rs34869648	0.86[AFR][1000 genomes]
rs34884883	0.86[AFR][1000 genomes]
rs35088242	0.86[AFR][1000 genomes]
rs35274562	0.86[AFR][1000 genomes]
rs35445446	0.86[AFR][1000 genomes]
rs35721478	0.86[AFR][1000 genomes]
rs35797388	0.86[AFR][1000 genomes]
rs36097803	0.86[AFR][1000 genomes]
rs36122085	0.86[AFR][1000 genomes]
rs4559081	0.86[AFR][1000 genomes]
rs66670017	0.86[AFR][1000 genomes]
rs68168863	0.86[AFR][1000 genomes]
rs755239	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33571600-33579000	Enhancers	Placenta	Placenta
2	chr6:33574400-33578600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33574400-33579000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:33574400-33579400	Enhancers	Spleen	Spleen
5	chr6:33574400-33579600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:33574400-33579600	Enhancers	Stomach Mucosa	stomach
7	chr6:33574400-33583200	Enhancers	HMEC	breast
8	chr6:33574600-33580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:33574800-33579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:33575000-33579600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:33575000-33580200	Enhancers	A549	lung
13	chr6:33575400-33579000	Enhancers	NHDF-Ad	bronchial
14	chr6:33575400-33579200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:33575600-33578000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:33575600-33578000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:33575600-33578600	Weak transcription	Esophagus	oesophagus
18	chr6:33575600-33579200	Enhancers	Fetal Lung	lung
19	chr6:33575800-33578000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:33575800-33579000	Enhancers	Right Ventricle	heart
21	chr6:33575800-33579200	Enhancers	HSMM	muscle
22	chr6:33575800-33579400	Enhancers	Right Atrium	heart
23	chr6:33576000-33579000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:33576200-33578000	Weak transcription	Gastric	stomach
25	chr6:33576200-33578800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:33576200-33579600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:33576400-33578000	Enhancers	K562	blood
28	chr6:33576400-33578600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:33576400-33578800	Enhancers	NHLF	lung
30	chr6:33576400-33579000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33576400-33579600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:33576400-33579600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:33576400-33579600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:33576400-33579600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:33576400-33580000	Enhancers	Left Ventricle	heart
36	chr6:33576600-33579000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:33576600-33579200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:33576600-33579200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:33576600-33579600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:33576600-33580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:33576600-33580400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:33576800-33578000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:33576800-33578200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:33576800-33578200	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:33576800-33578200	Enhancers	NH-A	brain
46	chr6:33576800-33579200	Enhancers	Fetal Muscle Leg	muscle
47	chr6:33576800-33579400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:33576800-33579400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:33576800-33579400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:33576800-33579400	Enhancers	Brain Cingulate Gyrus	brain

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