Variant report

Variant	rs11768039
Chromosome Location	chr7:70161221-70161222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70157686..70159380-chr7:70159994..70162274,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11771347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55767270	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62456812	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70158200-70161800	Active TSS	NHDF-Ad	bronchial
2	chr7:70158400-70161400	Active TSS	Brain Angular Gyrus	brain
3	chr7:70158400-70161600	Active TSS	Brain Substantia Nigra	brain
4	chr7:70158400-70161600	Active TSS	Ovary	ovary
5	chr7:70158400-70161800	Active TSS	Brain Hippocampus Middle	brain
6	chr7:70158400-70163600	Active TSS	Brain Anterior Caudate	brain
7	chr7:70158600-70161400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:70158600-70161400	Active TSS	Esophagus	oesophagus
9	chr7:70158600-70161400	Active TSS	Left Ventricle	heart
10	chr7:70158600-70161400	Bivalent/Poised TSS	A549	lung
11	chr7:70158600-70161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:70158600-70161600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:70158600-70161800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:70158600-70161800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:70158600-70161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:70158600-70161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:70158600-70161800	Active TSS	Fetal Intestine Large	intestine
18	chr7:70158600-70161800	Active TSS	Fetal Kidney	kidney
19	chr7:70158600-70161800	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:70158600-70162000	Active TSS	Aorta	Aorta
21	chr7:70158600-70162200	Active TSS	NHLF	lung
22	chr7:70158600-70164000	Active TSS	GM12878-XiMat	blood
23	chr7:70158800-70161400	Active TSS	Gastric	stomach
24	chr7:70158800-70161400	Active TSS	Lung	lung
25	chr7:70158800-70161400	Active TSS	Small Intestine	intestine
26	chr7:70158800-70161600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:70158800-70161600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:70158800-70161600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:70158800-70161600	Active TSS	Brain Cingulate Gyrus	brain
30	chr7:70158800-70161600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr7:70158800-70161600	Active TSS	Colonic Mucosa	Colon
32	chr7:70158800-70161600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:70158800-70161800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:70158800-70161800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:70158800-70161800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:70158800-70161800	Active TSS	Fetal Intestine Small	intestine
37	chr7:70158800-70161800	Active TSS	Fetal Muscle Trunk	muscle
38	chr7:70158800-70161800	Active TSS	Stomach Smooth Muscle	stomach
39	chr7:70158800-70161800	Active TSS	HSMMtube	muscle
40	chr7:70158800-70162000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:70158800-70162000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:70158800-70162200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:70158800-70162400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:70158800-70162600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:70158800-70163600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:70159000-70161400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:70159200-70161600	Active TSS	Right Atrium	heart
48	chr7:70159400-70162000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:70159800-70161400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:70159800-70161600	Flanking Active TSS	Adipose Nuclei	Adipose

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