Variant report

Variant	rs10275021
Chromosome Location	chr7:6211340-6211341
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	RAD21	chr7:6211243-6211840	H1-hESC	embryonic stem cell:	n/a	chr7:6211304-6211318 chr7:6211278-6211291 chr7:6211301-6211314
2	MAX	chr7:6211252-6211777	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr7:6211236-6211846	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:6211306-6211905	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr7:6211328-6211757	H1-hESC	embryonic stem cell:	n/a	chr7:6211551-6211564 chr7:6211551-6211561 chr7:6211549-6211559 chr7:6211550-6211564 chr7:6211329-6211340 chr7:6211551-6211564 chr7:6211551-6211564 chr7:6211550-6211565 chr7:6211552-6211561 chr7:6211551-6211564 chr7:6211552-6211562
6	CHD2	chr7:6211312-6211829	H1-hESC	embryonic stem cell:	n/a	chr7:6211548-6211558
7	POLR2A	chr7:6211322-6211492	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:6211181-6212644	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6211232-6211522	GM12891	blood:	n/a	n/a
10	SIN3A	chr7:6211249-6211788	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr7:6211309-6211724	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr7:6211257-6211764	H1-hESC	embryonic stem cell:	n/a	chr7:6211550-6211559
13	POLR2A	chr7:6211182-6211369	GM12878	blood:	n/a	n/a
14	TBP	chr7:6211212-6211765	H1-hESC	embryonic stem cell:	n/a	chr7:6211317-6211328

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6047355..6050049-chr7:6209625..6211423,2	MCF-7	breast:

Variant related genes	Relation type
CYTH3	TF binding region
ENSG00000106305	Chromatin interaction
ENSG00000122512	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10046499	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216107	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10224504	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10225119	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226743	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10228155	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10228389	0.94[ASN][1000 genomes]
rs10228430	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229323	0.81[ASN][1000 genomes]
rs10240510	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10241174	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10242394	0.94[ASN][1000 genomes]
rs10244640	1.00[JPT][hapmap]
rs10245186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10246266	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247585	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs10250285	0.94[ASN][1000 genomes]
rs10252947	1.00[JPT][hapmap]
rs10253501	1.00[JPT][hapmap]
rs10253733	0.93[EUR][1000 genomes]
rs10254689	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10255598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255662	1.00[JPT][hapmap]
rs10255914	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs10255918	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257181	1.00[ASN][1000 genomes]
rs10257248	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257654	0.94[ASN][1000 genomes]
rs10257971	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10261466	0.88[ASN][1000 genomes]
rs10267982	1.00[JPT][hapmap]
rs10279137	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280585	0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10282278	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11768047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768749	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11770730	0.88[ASN][1000 genomes]
rs12667323	1.00[ASN][1000 genomes]
rs12667392	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12669486	0.91[EUR][1000 genomes]
rs13437890	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136048	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385378	0.94[ASN][1000 genomes]
rs28575447	0.84[ASN][1000 genomes]
rs28589289	0.94[ASN][1000 genomes]
rs28880007	0.84[ASN][1000 genomes]
rs34123833	0.94[ASN][1000 genomes]
rs60892137	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61750868	1.00[ASN][1000 genomes]
rs61753115	0.94[ASN][1000 genomes]
rs61753118	0.94[ASN][1000 genomes]
rs6463540	1.00[JPT][hapmap]
rs6463541	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6463543	1.00[CHB][hapmap]
rs6463544	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6942707	1.00[JPT][hapmap]
rs6944071	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946205	1.00[JPT][hapmap]
rs6949823	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6960965	1.00[JPT][hapmap]
rs6962767	1.00[JPT][hapmap]
rs6969814	1.00[JPT][hapmap]
rs6969863	1.00[JPT][hapmap]
rs7777433	1.00[JPT][hapmap]
rs7780269	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7783018	1.00[JPT][hapmap]
rs7784130	1.00[MEX][hapmap]
rs7786473	1.00[MEX][hapmap]
rs7791225	1.00[JPT][hapmap]
rs7796322	0.94[ASN][1000 genomes]
rs7800777	1.00[JPT][hapmap]
rs7807841	1.00[JPT][hapmap]
rs958329	1.00[JPT][hapmap]
rs9655493	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	esv1795897	chr7:6170251-6212118	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking 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
11	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv818475	chr7:6187783-6212656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv522217	chr7:6189780-6212656	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv887426	chr7:6190126-6212656	Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6181200-6211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
4	chr7:6194600-6211400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:6200400-6212600	Weak transcription	HUVEC	blood vessel
9	chr7:6201400-6219200	Weak transcription	K562	blood
10	chr7:6201800-6212200	Weak transcription	HSMM	muscle
11	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
12	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:6201800-6226400	Weak transcription	Liver	Liver
14	chr7:6202000-6213400	Strong transcription	Gastric	stomach
15	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
20	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
22	chr7:6202600-6211800	Strong transcription	NHLF	lung
23	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
24	chr7:6202600-6228200	Weak transcription	Dnd41	blood
25	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:6204000-6212400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:6204200-6213000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:6204400-6211600	Weak transcription	NH-A	brain
29	chr7:6204600-6217000	Weak transcription	GM12878-XiMat	blood
30	chr7:6204600-6228000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:6204800-6212600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:6204800-6216400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:6204800-6216600	Weak transcription	Primary T cells from cord blood	blood
34	chr7:6205000-6215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:6205200-6212400	Weak transcription	A549	lung
36	chr7:6205800-6212400	Weak transcription	Brain Anterior Caudate	brain
37	chr7:6206200-6211400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:6206800-6212800	Strong transcription	Lung	lung
39	chr7:6207600-6212000	Weak transcription	Right Atrium	heart
40	chr7:6207600-6212600	Weak transcription	Primary B cells from cord blood	blood
41	chr7:6207800-6211600	Weak transcription	NHDF-Ad	bronchial
42	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:6208000-6211400	Strong transcription	Spleen	Spleen
44	chr7:6208200-6219600	Weak transcription	Fetal Thymus	thymus
45	chr7:6208600-6211600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:6209400-6213200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:6209400-6213400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:6209600-6211800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:6209800-6211600	Strong transcription	Placenta	Placenta

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