Variant report

Variant	rs671116
Chromosome Location	chr6:106760597-106760598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:106755689..106757416-chr6:106758927..106760990,2	K562	blood:
2	chr6:106597065..106599830-chr6:106759450..106761439,2	MCF-7	breast:
3	chr6:106757150..106763241-chr6:106770428..106774915,9	MCF-7	breast:
4	chr6:106759165..106761053-chr6:106765599..106767778,3	MCF-7	breast:
5	chr6:106750271..106753940-chr6:106760573..106763415,3	K562	blood:
6	chr6:106758772..106760743-chr6:106761718..106763978,2	MCF-7	breast:
7	chr6:106759060..106762188-chr6:106770312..106774543,4	MCF-7	breast:
8	chr6:106757707..106760749-chr6:106771872..106774963,3	K562	blood:
9	chr6:106757707..106762317-chr6:106772062..106775183,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000057663	Chromatin interaction
ENSG00000252444	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2245214	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2284192	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284194	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2743556	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2743565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2763219	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs573775	0.85[GIH][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap]
rs633724	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs646351	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs662114	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking 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	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
2	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
3	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
4	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
5	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:106727400-106762200	Weak transcription	Ovary	ovary
7	chr6:106727600-106760800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:106734800-106762800	Weak transcription	Gastric	stomach
9	chr6:106734800-106771800	Weak transcription	Esophagus	oesophagus
10	chr6:106735200-106773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:106738200-106761400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:106739600-106760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:106739800-106762800	Weak transcription	Lung	lung
14	chr6:106740000-106771400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:106740000-106773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:106740200-106760800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:106740200-106761000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:106740200-106761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:106740200-106761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:106740200-106761800	Weak transcription	Fetal Stomach	stomach
21	chr6:106740200-106762000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:106740200-106762200	Weak transcription	Thymus	Thymus
23	chr6:106740200-106771400	Weak transcription	Small Intestine	intestine
24	chr6:106740400-106760600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:106740400-106760600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:106740400-106762200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:106740600-106760800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:106740800-106760600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:106741000-106772200	Weak transcription	Fetal Lung	lung
30	chr6:106741200-106771400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:106741400-106760600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:106741400-106760800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:106746200-106760600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:106748800-106762200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:106751800-106771400	Weak transcription	Brain Germinal Matrix	brain
36	chr6:106753000-106760600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:106755200-106761000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:106755200-106762200	Weak transcription	Primary B cells from cord blood	blood
39	chr6:106755200-106763600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:106755800-106760800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:106755800-106762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:106756400-106762000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:106757000-106760600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:106757400-106762000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:106757800-106760800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:106757800-106771600	Weak transcription	Spleen	Spleen
47	chr6:106758200-106762800	Weak transcription	Aorta	Aorta
48	chr6:106758200-106762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:106758200-106762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:106758200-106763000	Weak transcription	Stomach Smooth Muscle	stomach

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