Variant report

Variant	rs2235395
Chromosome Location	chr6:11763232-11763233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11761684..11763323-chr6:12010359..12013235,2	K562	blood:
2	chr6:11763055..11764666-chr6:11765801..11768544,2	MCF-7	breast:
3	chr6:11760325..11763713-chr6:11770760..11773174,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12175671	1.00[YRI][hapmap]
rs12175871	0.87[YRI][hapmap]
rs12529085	0.92[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2076185	0.85[YRI][hapmap]
rs2076186	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2235391	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235393	0.80[ASN][1000 genomes]
rs2235394	0.81[ASN][1000 genomes]
rs2235406	0.92[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2235410	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2235412	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2235415	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2235416	1.00[YRI][hapmap]
rs2235426	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2281127	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2294418	0.92[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2294420	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2294426	0.82[YRI][hapmap]
rs3765254	0.87[YRI][hapmap]
rs6936922	0.87[YRI][hapmap]
rs9348960	0.87[YRI][hapmap]
rs9366875	0.87[YRI][hapmap]
rs9368869	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380512	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380513	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394271	0.87[YRI][hapmap]
rs9394301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394302	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11753200-11763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:11755800-11768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:11759000-11765800	Enhancers	Fetal Intestine Large	intestine
4	chr6:11759200-11764400	Enhancers	Stomach Mucosa	stomach
5	chr6:11759200-11765600	Enhancers	Fetal Intestine Small	intestine
6	chr6:11759400-11763600	Weak transcription	Esophagus	oesophagus
7	chr6:11759400-11769600	Weak transcription	Lung	lung
8	chr6:11759600-11763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:11759600-11765000	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:11759600-11765800	Weak transcription	Hela-S3	cervix
11	chr6:11759800-11764400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:11760000-11763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:11760400-11765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:11760600-11763600	Weak transcription	Ovary	ovary
15	chr6:11760600-11763600	Weak transcription	Right Atrium	heart
16	chr6:11760600-11766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:11760600-11770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:11760800-11763600	Weak transcription	Small Intestine	intestine
19	chr6:11761600-11765800	Weak transcription	K562	blood
20	chr6:11762000-11764400	Enhancers	NHEK	skin
21	chr6:11762000-11764600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:11762000-11767200	Enhancers	HSMMtube	muscle
23	chr6:11762200-11763600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:11762200-11763800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:11762200-11764000	Enhancers	Fetal Kidney	kidney
26	chr6:11762200-11764400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:11762200-11764600	Enhancers	Fetal Lung	lung
28	chr6:11762200-11764600	Enhancers	NH-A	brain
29	chr6:11762400-11763600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:11762400-11763600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:11762400-11763800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:11762400-11764000	Enhancers	Osteobl	bone
33	chr6:11762400-11764400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:11762400-11764400	Enhancers	HSMM	muscle
35	chr6:11762400-11764600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:11762400-11764600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:11762400-11765400	Enhancers	Aorta	Aorta
38	chr6:11762400-11768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:11762600-11763600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:11762600-11763600	Weak transcription	Gastric	stomach
41	chr6:11762600-11767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:11762600-11770600	Weak transcription	Spleen	Spleen
43	chr6:11762800-11763400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:11762800-11763600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:11762800-11764400	Weak transcription	A549	lung
46	chr6:11762800-11764600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:11762800-11764600	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:11763000-11763400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:11763000-11764400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr6:11763000-11764400	Enhancers	Rectal Mucosa Donor 31	rectum

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