Variant report

Variant	rs11752473
Chromosome Location	chr6:20201181-20201182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20201120..20201764-chr6:20210706..20211232,2	MCF-7	breast:
2	chr6:20200700..20201255-chr6:20210255..20211078,3	MCF-7	breast:
3	chr6:20199968..20202569-chr6:20401397..20403351,2	MCF-7	breast:
4	chr6:20199925..20202970-chr6:20211369..20213429,3	MCF-7	breast:
5	chr6:20195556..20197935-chr6:20198781..20201333,3	K562	blood:
6	chr6:20182072..20183869-chr6:20199499..20201801,2	MCF-7	breast:
7	chr6:20198875..20206310-chr6:20399680..20405305,15	K562	blood:

Variant related genes	Relation type
ENSG00000172197	Chromatin interaction
ENSG00000227803	Chromatin interaction
ENSG00000112242	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10447378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447379	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079124	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2182786	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2328393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7744816	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7767027	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9350221	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1033904	chr6:20127596-20210374	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1799840	chr6:20196549-20210374	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20139600-20201200	Weak transcription	Fetal Lung	lung
2	chr6:20175000-20201800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:20175000-20205200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:20175200-20202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:20182000-20204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:20183600-20204200	Weak transcription	Right Atrium	heart
7	chr6:20184400-20202400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:20187600-20201600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:20187600-20204400	Weak transcription	Lung	lung
10	chr6:20187800-20203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:20192000-20201200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:20193000-20209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:20193200-20201200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:20193200-20204200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:20193200-20204200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:20197400-20202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:20197800-20204400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:20198600-20201200	Weak transcription	NHEK	skin
19	chr6:20198600-20206400	Enhancers	Colon Smooth Muscle	Colon
20	chr6:20199200-20202200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:20199200-20202200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:20199200-20202600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:20199200-20204200	Weak transcription	Colonic Mucosa	Colon
24	chr6:20199400-20202200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:20199400-20202200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:20199400-20206000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:20199400-20207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:20199400-20210000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:20199600-20204200	Weak transcription	Adipose Nuclei	Adipose
30	chr6:20199600-20207600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:20199800-20201800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:20199800-20202200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:20199800-20204200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:20200400-20201200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:20200400-20203200	Enhancers	Fetal Kidney	kidney
36	chr6:20200400-20205000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr6:20200600-20201200	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:20200600-20201200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:20200600-20201200	Genic enhancers	Fetal Intestine Large	intestine
40	chr6:20200600-20201200	Genic enhancers	GM12878-XiMat	blood
41	chr6:20200600-20202000	Enhancers	Liver	Liver
42	chr6:20200600-20202000	Enhancers	Pancreas	Pancrea
43	chr6:20200600-20202200	Enhancers	Stomach Mucosa	stomach
44	chr6:20200600-20206200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:20200600-20209200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:20200800-20201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:20200800-20201200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:20200800-20201200	Genic enhancers	Fetal Intestine Small	intestine
49	chr6:20200800-20201200	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:20200800-20201200	Enhancers	Gastric	stomach

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