Variant report

Variant	rs6963442
Chromosome Location	chr7:139783148-139783149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139761748..139764976-chr7:139782920..139786439,4	K562	blood:
2	chr7:139761490..139764188-chr7:139782920..139786477,6	K562	blood:
3	chr7:139778983..139781030-chr7:139782834..139785709,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBXAS1-1	chr7:139782984-139783219	XLOC_006276
2	lnc-TBXAS1-1	chr7:139782983-139783219	NONHSAT123662

Variant related genes	Relation type
ENSG00000059378	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2471305	1.00[YRI][hapmap]
rs6948205	1.00[MEX][hapmap]
rs6978858	1.00[YRI][hapmap]
rs8192842	1.00[YRI][hapmap]

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	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active 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	15 gene(s)	inside rSNPs	diseases
2	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139770000-139783800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:139774200-139784000	Weak transcription	Right Atrium	heart
3	chr7:139775200-139783800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:139775800-139786400	Weak transcription	Placenta	Placenta
5	chr7:139777000-139799200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:139778400-139784000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:139778400-139788800	Weak transcription	Primary T cells from cord blood	blood
8	chr7:139778600-139783600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:139778600-139783600	Weak transcription	Thymus	Thymus
10	chr7:139778600-139784200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:139778600-139786600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:139778600-139790000	Weak transcription	Spleen	Spleen
13	chr7:139778600-139790800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:139778800-139783800	Weak transcription	Fetal Thymus	thymus
15	chr7:139778800-139799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:139779000-139783600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:139779000-139786600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:139779000-139789400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:139779000-139790600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:139779000-139812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:139779200-139790400	Weak transcription	Esophagus	oesophagus
22	chr7:139779200-139790600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:139779200-139790600	Weak transcription	Lung	lung
24	chr7:139779400-139786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:139779400-139789600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:139779400-139796000	Weak transcription	Fetal Heart	heart
27	chr7:139779400-139811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:139779600-139784200	Weak transcription	Left Ventricle	heart
29	chr7:139779600-139789400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:139779600-139790000	Weak transcription	Gastric	stomach
31	chr7:139779600-139790000	Weak transcription	Ovary	ovary
32	chr7:139779600-139790000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:139779600-139790600	Weak transcription	Right Ventricle	heart
34	chr7:139780000-139790000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:139780200-139790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:139780400-139789800	Weak transcription	Colonic Mucosa	Colon
37	chr7:139780600-139786600	Weak transcription	Adipose Nuclei	Adipose
38	chr7:139780800-139783600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr7:139780800-139790000	Weak transcription	Aorta	Aorta
40	chr7:139781000-139785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:139781000-139786400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:139781000-139786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:139781000-139790400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:139781000-139791000	Weak transcription	Brain Substantia Nigra	brain
45	chr7:139781200-139784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:139781200-139788000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:139781200-139790000	Weak transcription	Small Intestine	intestine
48	chr7:139781200-139790600	Weak transcription	HepG2	liver
49	chr7:139781200-139790800	Weak transcription	NHEK	skin
50	chr7:139781400-139786600	Weak transcription	Duodenum Mucosa	Duodenum

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