Variant report

Variant	rs2356696
Chromosome Location	chr7:12728357-12728358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:
2	chr7:12569916..12571808-chr7:12727581..12730204,2	K562	blood:
3	chr7:12608764..12610772-chr7:12727255..12728888,2	K562	blood:
4	chr7:12727333..12730021-chr7:12763089..12765693,3	K562	blood:
5	chr7:12726569..12729103-chr7:14030562..14032719,2	K562	blood:
6	chr7:12727781..12730322-chr7:12817926..12821146,3	K562	blood:

Variant related genes	Relation type
ENSG00000006747	Chromatin interaction
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv970447	chr7:12727573-12729164	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
6	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
7	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
8	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
10	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
11	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
14	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
15	chr7:12725800-12730400	Active TSS	Right Atrium	heart
16	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
17	chr7:12726000-12728800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:12726000-12728800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:12726000-12728800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:12726000-12728800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:12726000-12728800	Active TSS	A549	lung
22	chr7:12726000-12729000	Active TSS	Esophagus	oesophagus
23	chr7:12726000-12729200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:12726000-12730000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:12726000-12730000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:12726000-12730000	Active TSS	HSMM	muscle
27	chr7:12726000-12730000	Active TSS	HSMMtube	muscle
28	chr7:12726000-12730200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:12726000-12730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:12726000-12730200	Active TSS	Psoas Muscle	Psoas
31	chr7:12726000-12730400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:12726000-12730600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:12726000-12730800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:12726000-12730800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:12726200-12728800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:12726200-12728800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:12726200-12728800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:12726200-12728800	Active TSS	K562	blood
39	chr7:12726200-12728800	Active TSS	NHEK	skin
40	chr7:12726200-12729000	Active TSS	HUVEC	blood vessel
41	chr7:12726200-12729600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:12726200-12730200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:12726200-12730200	Active TSS	Placenta	Placenta
44	chr7:12726200-12730600	Active TSS	Fetal Intestine Large	intestine
45	chr7:12726200-12730800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:12726200-12730800	Active TSS	Duodenum Mucosa	Duodenum
47	chr7:12726200-12731000	Active TSS	HMEC	breast
48	chr7:12726200-12732800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:12726400-12728800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:12726400-12728800	Active TSS	Cortex derived primary cultured neurospheres	brain

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