Variant report

Variant	rs73412503
Chromosome Location	chr6:38201080-38201081
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	chr6:38193425..38195567-chr6:38201073..38203728,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61233899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903799	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412514	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423538	1.00[AMR][1000 genomes]
rs73423588	1.00[AMR][1000 genomes]
rs9765858	1.00[EUR][1000 genomes]

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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv520053	chr6:38154941-38207636	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38160800-38201400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:38167000-38210400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:38181000-38207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:38181400-38202600	Weak transcription	Fetal Stomach	stomach
7	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:38184200-38202800	Weak transcription	Psoas Muscle	Psoas
9	chr6:38186600-38215200	Weak transcription	Aorta	Aorta
10	chr6:38188000-38201200	Weak transcription	Spleen	Spleen
11	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:38195600-38203200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:38195800-38204400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:38198000-38204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:38199800-38203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:38200000-38201200	Weak transcription	Gastric	stomach
17	chr6:38200000-38207600	Weak transcription	Lung	lung
18	chr6:38200600-38201400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:38200600-38201400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:38200600-38201400	Enhancers	NHDF-Ad	bronchial
21	chr6:38200600-38201600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:38200600-38201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:38200600-38201600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:38200600-38201600	Enhancers	Osteobl	bone
25	chr6:38200600-38201800	Enhancers	Hela-S3	cervix
26	chr6:38200600-38202200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:38200600-38202200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:38200600-38203800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:38200600-38203800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:38200600-38204800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:38200600-38205200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:38200600-38205200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:38200600-38205400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:38201000-38201600	Enhancers	NH-A	brain
35	chr6:38201000-38202200	Enhancers	HUVEC	blood vessel
36	chr6:38201000-38204000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:38201000-38204400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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