Variant report

Variant	rs1700189
Chromosome Location	chr11:66258916-66258917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66258832-66259122	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr11:66258731-66259048	K562	blood:	n/a	n/a
3	CTCF	chr11:66258900-66259050	BE2_C	brain:	n/a	n/a
4	CTCF	chr11:66258880-66259030	HPF	lung:	n/a	n/a
5	CTCF	chr11:66258893-66259023	GM13977	blood:	n/a	n/a
6	ZNF143	chr11:66258836-66259140	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:66258900-66259050	GM12874	blood:	n/a	n/a
8	CTCF	chr11:66258860-66259010	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr11:66258904-66259046	GM12892	blood:	n/a	n/a
10	CTCF	chr11:66258900-66259050	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr11:66258901-66259074	IMR90	lung:	n/a	n/a
12	ZBTB7A	chr11:66258753-66259076	K562	blood:	n/a	n/a
13	CTCF	chr11:66258880-66259030	GM12873	blood:	n/a	n/a
14	CTCF	chr11:66258900-66259050	GM12873	blood:	n/a	n/a
15	RAD21	chr11:66258914-66259087	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:66258900-66259050	GM12872	blood:	n/a	n/a
17	CTCF	chr11:66258820-66258970	HCT-116	colon:	n/a	n/a
18	CTCF	chr11:66258885-66259054	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:66258880-66259030	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:66258860-66259010	HRE	kidney:	n/a	n/a
21	CTCF	chr11:66258880-66259030	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:66258900-66259050	AG10803	skin:	n/a	n/a
23	CTCF	chr11:66258747-66259131	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:66258900-66259050	GM12864	blood:	n/a	n/a
25	CTCF	chr11:66258878-66259008	GM19239	blood:	n/a	n/a
26	CTCF	chr11:66258874-66259063	Gliobla	brain:	n/a	n/a
27	CTCF	chr11:66258880-66259030	HCM	heart:	n/a	n/a
28	RAD21	chr11:66258698-66259207	H1-hESC	embryonic stem cell:	n/a	chr11:66258893-66258906
29	CTCF	chr11:66258835-66259131	K562	blood:	n/a	n/a
30	CTCF	chr11:66258871-66259079	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:66258881-66259060	GM12878	blood:	n/a	n/a
32	CTCF	chr11:66258880-66259030	AG04449	skin:	n/a	n/a
33	CTCF	chr11:66258880-66259030	NHEK	skin:	n/a	n/a
34	GABPA	chr11:66258797-66259132	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:66258860-66259060	GM12878	blood:	n/a	n/a
36	CTCF	chr11:66258748-66259164	K562	blood:	n/a	chr11:66259119-66259132
37	CTCF	chr11:66258900-66259050	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr11:66258900-66259050	GM12867	blood:	n/a	n/a
39	CTCF	chr11:66258900-66259050	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr11:66258900-66259050	GM12875	blood:	n/a	n/a
41	CTCF	chr11:66258900-66259050	GM12871	blood:	n/a	n/a
42	CTCF	chr11:66258900-66259050	HFF	foreskin:	n/a	n/a
43	CTCF	chr11:66258840-66258990	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr11:66258896-66259060	A549	lung:	n/a	n/a
45	CTCF	chr11:66258633-66259636	A549	lung:	n/a	chr11:66259119-66259132 chr11:66259284-66259305
46	CTCF	chr11:66258880-66259030	HMF	breast:	n/a	n/a
47	CTCF	chr11:66258900-66259050	Caco-2	colon:	n/a	n/a
48	CTCF	chr11:66258874-66259047	ProgFib	skin:	n/a	n/a
49	TBP	chr11:66258859-66259135	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr11:66258873-66259085	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66243721..66249369-chr11:66258892..66263387,7	MCF-7	breast:
2	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:
3	chr11:66257660..66259659-chr11:66383000..66385140,2	MCF-7	breast:
4	chr11:66257407..66259570-chr11:66310749..66314431,3	MCF-7	breast:

No data

Variant related genes	Relation type
DPP3	TF binding region
ENSG00000255517	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10736656	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791882	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12577111	0.86[JPT][hapmap]
rs1671062	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671063	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671064	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1671065	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1700184	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1791684	0.86[JPT][hapmap]
rs1791686	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1791687	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1815739	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2000939	0.83[ASN][1000 genomes]
rs2276138	0.86[JPT][hapmap]
rs2279863	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444846	0.86[AMR][1000 genomes]
rs3018318	0.81[ASN][1000 genomes]
rs3107024	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741363	0.86[JPT][hapmap]
rs486584	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs4930387	0.87[JPT][hapmap];0.80[YRI][hapmap]
rs503250	0.82[JPT][hapmap]
rs509556	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs535211	0.82[JPT][hapmap]
rs540874	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs545009	0.82[ASN][1000 genomes]
rs556759	0.82[JPT][hapmap]
rs560556	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs572846	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs577023	0.86[JPT][hapmap]
rs580910	0.82[JPT][hapmap]
rs615205	0.82[ASN][1000 genomes]
rs618838	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs630021	0.81[ASN][1000 genomes]
rs677488	0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs678397	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7925093	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7925108	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8432	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1700189	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:66248600-66259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:66248600-66260200	Weak transcription	HUVEC	blood vessel
4	chr11:66248600-66260200	Weak transcription	NH-A	brain
5	chr11:66248600-66260600	Weak transcription	Psoas Muscle	Psoas
6	chr11:66248600-66260800	Weak transcription	Right Atrium	heart
7	chr11:66248600-66261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:66248600-66263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:66248600-66263200	Weak transcription	Small Intestine	intestine
10	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
12	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
13	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
14	chr11:66248800-66259200	Weak transcription	HMEC	breast
15	chr11:66248800-66261200	Weak transcription	Stomach Mucosa	stomach
16	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:66248800-66277600	Weak transcription	K562	blood
18	chr11:66249600-66259200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:66249600-66265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:66249600-66265400	Strong transcription	Lung	lung
21	chr11:66249600-66266800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:66249600-66268200	Strong transcription	Thymus	Thymus
23	chr11:66249600-66268400	Strong transcription	Adipose Nuclei	Adipose
24	chr11:66249800-66260400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr11:66249800-66265200	Strong transcription	Gastric	stomach
26	chr11:66249800-66265200	Strong transcription	NHEK	skin
27	chr11:66249800-66267000	Strong transcription	Spleen	Spleen
28	chr11:66249800-66268800	Strong transcription	Fetal Thymus	thymus
29	chr11:66249800-66268800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:66250000-66259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:66250000-66268400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:66250200-66260000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:66250200-66261200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:66250200-66266600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:66250200-66266600	Strong transcription	Dnd41	blood
37	chr11:66250200-66268400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:66250200-66268400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:66250400-66268200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:66250600-66268800	Strong transcription	Liver	Liver
41	chr11:66250800-66268200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:66251400-66269000	Strong transcription	Fetal Brain Female	brain
44	chr11:66251600-66265400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:66251800-66259600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:66251800-66259800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:66251800-66265200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:66251800-66265400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:66251800-66268400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:66251800-66274600	Strong transcription	Fetal Stomach	stomach

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