Variant report

Variant	rs836533
Chromosome Location	chr7:6473703-6473704
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6472621..6474361-chr7:6478935..6480630,2	MCF-7	breast:
2	chr7:6473181..6475234-chr7:6522013..6523571,2	MCF-7	breast:
3	chr7:6473644..6475592-chr7:6483600..6485102,2	K562	blood:
4	chr7:6472532..6475025-chr7:6477721..6479595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10225406	0.89[AMR][1000 genomes]
rs10255411	1.00[MEX][hapmap]
rs10267982	1.00[MEX][hapmap]
rs28711736	0.80[AMR][1000 genomes]
rs3729796	1.00[CEU][hapmap]
rs6951997	1.00[CEU][hapmap]
rs7802183	1.00[JPT][hapmap]
rs836475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs836481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs836495	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs836496	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836497	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs836501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836502	1.00[ASN][1000 genomes]
rs836505	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836512	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836515	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836522	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs836524	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs836525	0.90[CHD][hapmap]
rs836530	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs836535	0.90[CHD][hapmap]
rs836537	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836541	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836560	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
6	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:6444000-6474600	Strong transcription	Lung	lung
8	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
9	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
11	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
12	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
15	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:6459000-6474400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr7:6459000-6474600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:6459000-6474800	Strong transcription	Primary T cells from cord blood	blood
21	chr7:6459600-6474800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
23	chr7:6460800-6474600	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:6461800-6478000	Weak transcription	HUVEC	blood vessel
25	chr7:6462200-6475400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr7:6462600-6475000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:6462600-6476200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:6463000-6475200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:6463000-6476000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:6463200-6474800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:6463800-6474600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:6464000-6474800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:6464200-6474200	Strong transcription	Left Ventricle	heart
34	chr7:6464200-6474400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:6464200-6474600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
37	chr7:6464800-6475000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:6464800-6475000	Strong transcription	Fetal Thymus	thymus
39	chr7:6465000-6477200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:6465400-6474000	Strong transcription	Adipose Nuclei	Adipose
42	chr7:6465600-6478200	Weak transcription	Right Ventricle	heart
43	chr7:6465800-6475200	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:6465800-6475200	Weak transcription	Fetal Heart	heart
45	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
46	chr7:6466000-6474000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:6466000-6475200	Weak transcription	Brain Angular Gyrus	brain
48	chr7:6466000-6475200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:6466000-6481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:6466000-6486400	Weak transcription	Aorta	Aorta

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