Variant report

Variant	rs1243195
Chromosome Location	chr10:21979769-21979770
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	chr10:21784768..21786630-chr10:21978936..21981188,2	K562	blood:

Variant related genes	Relation type
ENSG00000222071	Chromatin interaction
ENSG00000204682	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10430587	0.92[MEX][hapmap];0.86[AMR][1000 genomes]
rs10508639	1.00[CHB][hapmap]
rs10740991	1.00[CHB][hapmap]
rs10828252	1.00[CHB][hapmap]
rs10828264	1.00[CHB][hapmap]
rs10828266	1.00[CHB][hapmap]
rs11012737	1.00[CHB][hapmap]
rs11012794	1.00[CHB][hapmap]
rs12357321	1.00[CHB][hapmap]
rs1243194	1.00[CHB][hapmap]
rs1269454	1.00[CHB][hapmap]
rs12770228	1.00[CHB][hapmap]
rs2026092	1.00[CHB][hapmap]
rs2066270	1.00[CHB][hapmap]
rs2066271	1.00[CHB][hapmap]
rs2185163	0.94[AMR][1000 genomes]
rs2666769	1.00[CHB][hapmap]
rs2666771	1.00[CHB][hapmap]
rs2666779	1.00[CHB][hapmap]
rs3951780	1.00[CHB][hapmap]
rs4024198	1.00[CHB][hapmap]
rs7079396	0.94[AMR][1000 genomes]
rs7082663	1.00[CHB][hapmap]
rs7084454	1.00[CHB][hapmap]
rs792453	1.00[CHB][hapmap]
rs806774	1.00[CHB][hapmap]
rs946711	1.00[CHB][hapmap]

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	nsv1036585	chr10:21833717-21998042	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv550202	chr10:21856475-22027644	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv1792771	chr10:21874152-22013644	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1803077	chr10:21878144-22013644	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21915200-21983800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:21923800-21983200	Weak transcription	NHLF	lung
3	chr10:21928600-21988200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:21929800-21988000	Weak transcription	HUVEC	blood vessel
5	chr10:21938600-21993800	Weak transcription	Lung	lung
6	chr10:21942400-21987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:21942600-22004000	Weak transcription	NH-A	brain
8	chr10:21942800-21988400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:21943800-22002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:21951200-21989000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:21951800-21989200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:21952000-21984800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:21952000-21988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:21952600-21983600	Weak transcription	Psoas Muscle	Psoas
15	chr10:21955000-21981600	Weak transcription	Placenta	Placenta
16	chr10:21955000-21983800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:21955000-21988000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:21956800-21988000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:21959600-21984600	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:21960400-21983800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:21961400-21981000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:21961400-21993800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:21961600-21980800	Weak transcription	Fetal Intestine Small	intestine
24	chr10:21961600-21983400	Weak transcription	Fetal Stomach	stomach
25	chr10:21962600-21986600	Weak transcription	Fetal Kidney	kidney
26	chr10:21962800-21981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:21962800-21984000	Weak transcription	Thymus	Thymus
28	chr10:21962800-21986800	Weak transcription	Fetal Lung	lung
29	chr10:21962800-21988200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:21963000-21983600	Weak transcription	Aorta	Aorta
31	chr10:21963000-21986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:21963000-21988000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:21963000-21988200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:21963000-21993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:21964400-21983000	Weak transcription	Ovary	ovary
36	chr10:21966800-21982200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:21967400-21983800	Weak transcription	Left Ventricle	heart
38	chr10:21968200-21983600	Weak transcription	Brain Angular Gyrus	brain
39	chr10:21969000-21984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr10:21969000-21987600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:21970400-21981400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:21970400-21984600	Weak transcription	HMEC	breast
43	chr10:21970400-21988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:21970400-21988600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:21971000-21983800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr10:21973400-21987000	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:21973600-21981600	Weak transcription	Liver	Liver
48	chr10:21974000-21980000	Weak transcription	Dnd41	blood
49	chr10:21975400-21984400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr10:21975600-21982400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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