Variant report

Variant	rs943573
Chromosome Location	chr6:20198845-20198846
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	chr6:20198811..20199394-chr6:20211686..20212534,2	K562	blood:
2	chr6:20195556..20197935-chr6:20198781..20201333,3	K562	blood:

Variant related genes	Relation type
ENSG00000227803	Chromatin interaction

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

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

rs_ID	r²[population]
rs10447378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10447379	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1079124	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11752473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2182786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7744816	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7767027	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9350221	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1033904	chr6:20127596-20210374	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1799840	chr6:20196549-20210374	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 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	chr6:20139600-20201200	Weak transcription	Fetal Lung	lung
2	chr6:20175000-20201800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:20175000-20205200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:20175200-20202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:20182000-20204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:20183600-20204200	Weak transcription	Right Atrium	heart
7	chr6:20184400-20202400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:20184600-20200800	Weak transcription	Hela-S3	cervix
9	chr6:20187200-20199000	Weak transcription	Fetal Stomach	stomach
10	chr6:20187200-20201000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:20187600-20201600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:20187600-20204400	Weak transcription	Lung	lung
13	chr6:20187800-20203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:20188800-20200600	Weak transcription	Dnd41	blood
15	chr6:20189400-20200200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:20189400-20200400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:20192000-20200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:20192000-20200600	Weak transcription	Pancreas	Pancrea
19	chr6:20192000-20201200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:20192800-20199800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:20193000-20209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:20193200-20200600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:20193200-20200800	Weak transcription	K562	blood
24	chr6:20193200-20201200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:20193200-20204200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:20193200-20204200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:20193400-20200800	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:20195600-20200800	Weak transcription	Gastric	stomach
29	chr6:20196200-20200800	Weak transcription	Right Ventricle	heart
30	chr6:20196400-20200600	Weak transcription	Stomach Mucosa	stomach
31	chr6:20196400-20200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:20196400-20200800	Weak transcription	Left Ventricle	heart
33	chr6:20197200-20199200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:20197200-20200000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:20197400-20199400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:20197400-20199400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:20197400-20199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:20197400-20200600	Enhancers	GM12878-XiMat	blood
39	chr6:20197400-20202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:20197600-20199200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:20197600-20199400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:20197600-20200000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:20197800-20199200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr6:20197800-20199400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:20197800-20204400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:20198000-20200800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:20198000-20200800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:20198000-20200800	Weak transcription	Fetal Heart	heart
49	chr6:20198000-20201000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:20198400-20199400	Enhancers	H1 Cell Line	embryonic stem cell

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