Variant report

Variant	rs6949393
Chromosome Location	chr7:50776896-50776897
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:
2	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12113777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946052	1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6961447	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963038	0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974112	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active 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 miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
4	chr7:50756200-50779200	Weak transcription	Osteobl	bone
5	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
6	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:50764000-50778800	Weak transcription	HSMM	muscle
8	chr7:50765800-50777000	Weak transcription	Fetal Stomach	stomach
9	chr7:50766200-50777600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
13	chr7:50766600-50779000	Weak transcription	Fetal Lung	lung
14	chr7:50770400-50777000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50770400-50778000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:50770400-50778000	Weak transcription	Spleen	Spleen
17	chr7:50770400-50778800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:50770400-50779000	Weak transcription	Ovary	ovary
19	chr7:50770600-50779200	Weak transcription	NH-A	brain
20	chr7:50770600-50779200	Weak transcription	NHDF-Ad	bronchial
21	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:50771400-50777000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:50771400-50779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:50771600-50777600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:50771600-50777600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:50771600-50780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:50771800-50777800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:50772000-50791600	Weak transcription	K562	blood
30	chr7:50773000-50780400	Weak transcription	Fetal Brain Female	brain
31	chr7:50773000-50780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:50773400-50777400	Enhancers	A549	lung
36	chr7:50773400-50778000	Enhancers	Liver	Liver
37	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:50773800-50777400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:50774200-50777200	Enhancers	Right Atrium	heart
41	chr7:50774200-50777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:50774200-50778000	Enhancers	Stomach Smooth Muscle	stomach
43	chr7:50774200-50779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:50774400-50778000	Enhancers	Left Ventricle	heart
45	chr7:50774400-50778000	Enhancers	Right Ventricle	heart
46	chr7:50774400-50779800	Enhancers	Lung	lung
47	chr7:50774400-50780200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:50774600-50779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
50	chr7:50774600-50782400	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links