Variant report

Variant	rs6461618
Chromosome Location	chr7:21963613-21963614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21957056..21958592-chr7:21961701..21964612,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1174988	1.00[EUR][1000 genomes]
rs1174997	1.00[EUR][1000 genomes]
rs1174999	1.00[EUR][1000 genomes]
rs1406706	1.00[EUR][1000 genomes]
rs1534763	1.00[EUR][1000 genomes]
rs1730902	1.00[EUR][1000 genomes]
rs4521668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57121717	1.00[EUR][1000 genomes]
rs57454869	1.00[EUR][1000 genomes]
rs6461624	0.90[YRI][hapmap]
rs6958427	1.00[YRI][hapmap]
rs73268748	1.00[EUR][1000 genomes]
rs73268753	1.00[EUR][1000 genomes]
rs73268755	1.00[EUR][1000 genomes]
rs73268756	1.00[EUR][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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:21951600-21982600	Weak transcription	HSMM	muscle
4	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
5	chr7:21954800-21966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:21954800-21970400	Weak transcription	Liver	Liver
7	chr7:21954800-21971800	Weak transcription	Gastric	stomach
8	chr7:21955000-21967400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:21955000-21969800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:21955200-21967800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:21956000-21966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:21956000-21976400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:21956200-21967200	Weak transcription	Thymus	Thymus
19	chr7:21956200-21967400	Weak transcription	Fetal Stomach	stomach
20	chr7:21956200-21976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:21956400-21965400	Enhancers	Fetal Heart	heart
22	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:21956600-21964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:21956600-21966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:21956600-21967400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:21956600-21970000	Weak transcription	Fetal Thymus	thymus
27	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:21956800-21966600	Weak transcription	NHEK	skin
29	chr7:21958200-21965200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:21959600-21965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:21959800-21964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:21959800-21967000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:21959800-21973800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:21960000-21965000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:21960000-21965000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:21960200-21965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:21960200-21965000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:21960200-21965200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:21961200-21967600	Weak transcription	Right Ventricle	heart
40	chr7:21961400-21967200	Weak transcription	Primary T cells from cord blood	blood
41	chr7:21961600-21964200	Enhancers	HUVEC	blood vessel
42	chr7:21961600-21966200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:21962200-21967200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:21962600-21963800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:21962600-21964000	Weak transcription	Primary B cells from cord blood	blood
46	chr7:21962600-21965000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:21962800-21964400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:21962800-21965200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:21963000-21964200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:21963200-21965000	Enhancers	HUES6 Cell Line	embryonic stem cell

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