Variant report

Variant	rs17221197
Chromosome Location	chr10:224255-224256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr10:224217-224587	GM12878	blood:	n/a	n/a
2	CTCF	chr10:224120-224521	MCF-7	breast:	n/a	chr10:224356-224377 chr10:224355-224371
3	CTCF	chr10:224160-224310	GM12864	blood:	n/a	n/a
4	CTCF	chr10:224240-224390	RPTEC	kidney:	n/a	chr10:224356-224377 chr10:224355-224371
5	CTCF	chr10:224200-224350	HFF	foreskin:	n/a	n/a
6	CTCF	chr10:224240-224390	HCT-116	colon:	n/a	chr10:224356-224377 chr10:224355-224371
7	CTCF	chr10:224238-224496	HUVEC	blood vessel:	n/a	chr10:224356-224377 chr10:224355-224371
8	CTCF	chr10:224155-224563	GM12878	blood:	n/a	chr10:224356-224377 chr10:224355-224371
9	CTCF	chr10:224250-224464	Medullo	brain:	n/a	chr10:224356-224377 chr10:224355-224371
10	SMC3	chr10:224031-225043	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr10:224134-224541	K562	blood:	n/a	chr10:224356-224377 chr10:224355-224371
12	CTCF	chr10:224220-224370	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr10:224173-224556	IMR90	lung:	n/a	chr10:224356-224377 chr10:224355-224371
14	RAD21	chr10:224155-224583	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr10:224101-224576	HepG2	liver:	n/a	n/a
16	RAD21	chr10:224115-224545	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:224220-224370	GM12873	blood:	n/a	n/a
18	RAD21	chr10:224182-224579	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr10:224234-224531	H1-hESC	embryonic stem cell:	n/a	n/a
20	SMC3	chr10:224181-224527	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr10:223952-224795	A549	lung:	n/a	chr10:224356-224377 chr10:224355-224371
22	RAD21	chr10:224249-224442	K562	blood:	n/a	n/a
23	RAD21	chr10:224193-224622	HCT-116	colon:	n/a	n/a
24	RAD21	chr10:224115-224713	HCT-116	colon:	n/a	n/a
25	RAD21	chr10:224156-224541	SK-N-SH_RA	brain:	n/a	n/a
26	SMC3	chr10:224238-224510	HepG2	liver:	n/a	n/a
27	CTCF	chr10:224019-224660	HCT-116	colon:	n/a	chr10:224356-224377 chr10:224355-224371
28	RAD21	chr10:224093-224538	A549	lung:	n/a	n/a
29	RAD21	chr10:224213-224510	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr10:224160-224539	A549	lung:	n/a	n/a
31	CTCF	chr10:224240-224390	HCM	heart:	n/a	chr10:224356-224377 chr10:224355-224371
32	CTCF	chr10:224240-224390	HRE	kidney:	n/a	chr10:224356-224377 chr10:224355-224371
33	RAD21	chr10:224209-224605	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:224226-224521	A549	lung:	n/a	chr10:224356-224377 chr10:224355-224371
35	CTCF	chr10:224220-224370	AG09309	skin:	n/a	n/a
36	RAD21	chr10:224208-224540	HepG2	liver:	n/a	n/a
37	CTCF	chr10:224006-224577	SK-N-SH	brain:	n/a	chr10:224356-224377 chr10:224355-224371
38	CTCF	chr10:224240-224390	HL-60	blood:	n/a	chr10:224356-224377 chr10:224355-224371
39	RAD21	chr10:224161-224521	SK-N-SH_RA	brain:	n/a	n/a
40	IRF1	chr10:224166-224603	K562	blood:	n/a	chr10:224289-224296
41	CTCF	chr10:224240-224390	WI-38	lung:	n/a	chr10:224356-224377 chr10:224355-224371
42	RAD21	chr10:223957-224861	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr10:224105-224596	MCF-7	breast:	n/a	chr10:224356-224377 chr10:224355-224371
44	CTCF	chr10:224220-224370	BE2_C	brain:	n/a	n/a
45	CTCF	chr10:224240-224390	AoAF	blood vessel:	n/a	chr10:224356-224377 chr10:224355-224371
46	CTCF	chr10:224220-224370	NHLF	lung:	n/a	n/a
47	CTCF	chr10:224200-224350	BE2_C	brain:	n/a	n/a
48	CTCF	chr10:224231-224480	Spleen_OC	spleen:	n/a	chr10:224356-224377 chr10:224355-224371
49	RAD21	chr10:224089-224573	IMR90	lung:	n/a	n/a
50	CTCF	chr10:224220-224440	SK-N-SH_RA	brain:	n/a	chr10:224356-224377 chr10:224355-224371

No.	Distal block	Cell Line	Cell type
1	chr10:179779..183276-chr10:221737..225213,4	MCF-7	breast:
2	chr10:180183..183499-chr10:221867..225707,5	MCF-7	breast:
3	chr10:224018..224792-chr10:255032..255727,2	MCF-7	breast:
4	chr10:223536..224313-chr10:276480..277364,2	MCF-7	breast:

Variant related genes	Relation type
ZMYND11	TF binding region
ENSG00000015171	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10508201	0.91[CEU][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs10736951	0.91[JPT][hapmap]
rs10903692	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10903844	0.85[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs11250289	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11250292	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11250419	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250488	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250528	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250529	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250575	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250797	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11251173	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11592007	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11592027	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11594308	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11599450	0.85[EUR][1000 genomes]
rs12357593	1.00[CHB][hapmap]
rs12360337	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1476130	0.88[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs17221225	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17221239	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17221260	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs2379049	0.82[EUR][1000 genomes]
rs2448364	0.88[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs2448366	0.88[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2448371	0.85[EUR][1000 genomes]
rs2448373	0.84[EUR][1000 genomes]
rs2448380	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2448381	0.83[EUR][1000 genomes]
rs2448384	0.88[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2496275	0.88[CEU][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2496278	0.80[CEU][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs4275539	0.84[EUR][1000 genomes]
rs56217646	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61836334	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61836335	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61836338	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7089302	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090608	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896421	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7912326	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7919162	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs7919436	0.91[CEU][hapmap]
rs9419432	0.87[EUR][1000 genomes]
rs9419496	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531919	chr10:60001-668649	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1040332	chr10:72797-244561	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1044775	chr10:72797-250662	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1047868	chr10:72797-259003	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1048232	chr10:72797-274675	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:194200-228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:200000-228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:200400-226800	Weak transcription	HSMM	muscle
4	chr10:200400-230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:207200-226800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:208200-293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:209800-225800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:209800-226600	Weak transcription	Liver	Liver
9	chr10:210800-224800	Weak transcription	Ovary	ovary
10	chr10:212800-226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:213800-226000	Weak transcription	Dnd41	blood
12	chr10:215200-237600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:215400-227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:215600-226600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:216200-227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:217600-226000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:217800-225800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:218200-227000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:218200-227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:218200-238000	Weak transcription	Pancreas	Pancrea
21	chr10:218200-242800	Weak transcription	Fetal Brain Male	brain
22	chr10:218600-226400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:218600-227400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:219000-226000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:219400-225800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:219600-226200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr10:220000-226600	Weak transcription	Brain Anterior Caudate	brain
28	chr10:220200-227400	Weak transcription	HUVEC	blood vessel
29	chr10:220400-224600	Weak transcription	Fetal Heart	heart
30	chr10:220600-280800	Weak transcription	Gastric	stomach
31	chr10:222200-225800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:222200-226200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:222600-226800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr10:223000-229400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:223000-237800	Weak transcription	Psoas Muscle	Psoas
36	chr10:223200-224600	Weak transcription	Brain Angular Gyrus	brain
37	chr10:223200-224800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:223200-227000	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:223400-224600	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:223400-228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:223600-225800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:223600-242800	Weak transcription	Aorta	Aorta
43	chr10:224000-226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:224000-226600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:224200-226400	Weak transcription	Fetal Intestine Large	intestine
46	chr10:224200-226600	Weak transcription	A549	lung
47	chr10:224200-227200	Weak transcription	Primary T cells from cord blood	blood
48	chr10:224200-227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:224200-227800	Weak transcription	Brain Germinal Matrix	brain
50	chr10:224200-228000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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