Variant report

Variant	rs10778896
Chromosome Location	chr12:82756398-82756399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82751142..82753758-chr12:82756054..82758816,4	K562	blood:
2	chr12:82750329..82753915-chr12:82754301..82756998,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127720	Chromatin interaction
ENSG00000133773	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10778890	1.00[AFR][1000 genomes]
rs10778893	1.00[AFR][1000 genomes]
rs10778899	1.00[AFR][1000 genomes]
rs2717448	1.00[AFR][1000 genomes]
rs4509843	1.00[AFR][1000 genomes]
rs8181779	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753200-82767200	Weak transcription	Aorta	Aorta
2	chr12:82753200-82767800	Weak transcription	Esophagus	oesophagus
3	chr12:82753200-82767800	Weak transcription	Lung	lung
4	chr12:82753400-82756800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:82753400-82756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:82753400-82756800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:82753400-82761400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:82753400-82763000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:82753400-82763200	Weak transcription	Placenta	Placenta
10	chr12:82753400-82763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:82753400-82765200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:82753400-82765400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:82753400-82767400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:82753400-82767800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:82753400-82767800	Weak transcription	Thymus	Thymus
16	chr12:82753400-82768600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:82753600-82756800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:82753600-82758000	Weak transcription	Left Ventricle	heart
20	chr12:82753600-82758000	Weak transcription	Psoas Muscle	Psoas
21	chr12:82753600-82758000	Weak transcription	HSMM	muscle
22	chr12:82753600-82763400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:82753600-82763400	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:82753600-82767600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:82753600-82777800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:82753600-82782400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:82753800-82756400	Weak transcription	A549	lung
30	chr12:82753800-82756800	Weak transcription	HSMMtube	muscle
31	chr12:82753800-82757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:82753800-82758000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:82753800-82758000	Weak transcription	Right Atrium	heart
34	chr12:82753800-82759800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:82753800-82760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:82753800-82761600	Weak transcription	Stomach Mucosa	stomach
37	chr12:82753800-82763000	Weak transcription	Primary T cells from cord blood	blood
38	chr12:82753800-82763200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:82753800-82763400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:82753800-82767200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:82753800-82767600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:82753800-82767600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:82753800-82770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:82754000-82757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:82754200-82769000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:82754200-82779600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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