Variant report

Variant	rs60170908
Chromosome Location	chr11:68351536-68351537
allele	A/G
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	ELF1	chr11:68351528-68351763	HepG2	liver:	n/a	chr11:68351640-68351653
2	POLR2A	chr11:68351503-68351892	K562	blood:	n/a	n/a
3	CTCF	chr11:68351437-68351885	H1-hESC	embryonic stem cell:	n/a	chr11:68351656-68351674
4	SPI1	chr11:68351490-68351796	GM12878	blood:	n/a	n/a
5	CTCF	chr11:68351417-68351860	H1-hESC	embryonic stem cell:	n/a	chr11:68351656-68351674
6	MYC	chr11:68351486-68351742	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:68351528-68351840	A549	lung:	n/a	chr11:68351656-68351674
8	RFX5	chr11:68351367-68351724	GM12878	blood:	n/a	chr11:68351376-68351392
9	MAX	chr11:68351486-68351719	GM12878	blood:	n/a	n/a
10	RAD21	chr11:68351504-68351813	HepG2	liver:	n/a	chr11:68351662-68351674
11	CTCF	chr11:68351532-68351819	GM12878	blood:	n/a	chr11:68351656-68351674
12	CTCF	chr11:68351536-68351820	Gliobla	brain:	n/a	chr11:68351656-68351674
13	RAD21	chr11:68351498-68351751	GM12878	blood:	n/a	chr11:68351662-68351674
14	JUND	chr11:68351515-68351787	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:68351497-68351887	K562	blood:	n/a	chr11:68351656-68351674
16	RAD21	chr11:68351296-68351913	SK-N-SH	brain:	n/a	chr11:68351662-68351674
17	CTCF	chr11:68351463-68351861	K562	blood:	n/a	chr11:68351656-68351674
18	BRCA1	chr11:68351478-68351797	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr11:68351484-68351899	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr11:68351436-68351943	ECC-1	luminal epithelium:	n/a	chr11:68351662-68351674
21	CTCF	chr11:68351440-68351590	WI-38	lung:	n/a	n/a
22	SMC3	chr11:68351522-68351786	GM12878	blood:	n/a	n/a
23	ELF1	chr11:68351525-68351868	GM12878	blood:	n/a	chr11:68351640-68351653
24	CTCF	chr11:68351465-68351920	MCF-7	breast:	n/a	chr11:68351656-68351674
25	CTCF	chr11:68351474-68351776	SK-N-SH_RA	brain:	n/a	chr11:68351656-68351674
26	RAD21	chr11:68351366-68351922	HCT-116	colon:	n/a	chr11:68351662-68351674
27	RAD21	chr11:68351518-68351837	Hela-S3	cervix:	n/a	chr11:68351662-68351674
28	CTCF	chr11:68351520-68351670	GM12870	blood:	n/a	n/a
29	CTCF	chr11:68351500-68351650	HAc	cerebellar:	n/a	n/a
30	RAD21	chr11:68351441-68351895	H1-hESC	embryonic stem cell:	n/a	chr11:68351662-68351674
31	RAD21	chr11:68351529-68351787	HepG2	liver:	n/a	chr11:68351662-68351674
32	CTCF	chr11:68351290-68352025	SK-N-SH	brain:	n/a	chr11:68351656-68351674
33	CTCF	chr11:68351405-68351976	MCF-7	breast:	n/a	chr11:68351656-68351674
34	CTCF	chr11:68351440-68351590	A549	lung:	n/a	n/a
35	ELF1	chr11:68351495-68351833	HepG2	liver:	n/a	chr11:68351640-68351653
36	MAFK	chr11:68351520-68351720	HepG2	liver:	n/a	n/a
37	CTCF	chr11:68351530-68351776	HUVEC	blood vessel:	n/a	chr11:68351656-68351674
38	ZNF143	chr11:68351492-68351848	K562	blood:	n/a	n/a
39	RAD21	chr11:68351496-68351853	H1-hESC	embryonic stem cell:	n/a	chr11:68351662-68351674
40	CTCF	chr11:68351520-68351670	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr11:68351531-68351806	MCF-7	breast:	n/a	chr11:68351656-68351674
42	CTCF	chr11:68351455-68351879	A549	lung:	n/a	chr11:68351656-68351674
43	RAD21	chr11:68351488-68351749	SK-N-SH_RA	brain:	n/a	chr11:68351662-68351674
44	MAFF	chr11:68351528-68351731	HepG2	liver:	n/a	chr11:68351613-68351631
45	ZNF143	chr11:68351496-68351852	GM12878	blood:	n/a	n/a
46	ELF1	chr11:68351391-68351851	K562	blood:	n/a	chr11:68351640-68351653
47	RAD21	chr11:68351433-68351895	HCT-116	colon:	n/a	chr11:68351662-68351674
48	ELF1	chr11:68351487-68351862	GM12878	blood:	n/a	chr11:68351640-68351653
49	CTCF	chr11:68351496-68351922	K562	blood:	n/a	chr11:68351656-68351674
50	SIN3A	chr11:68351439-68351866	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:68347295..68351656-chr11:68353371..68355649,3	MCF-7	breast:
2	chr11:68226755..68229089-chr11:68350474..68353083,2	K562	blood:
3	chr11:68226828..68228925-chr11:68351073..68354033,2	MCF-7	breast:
4	chr11:68345441..68349063-chr11:68349370..68352338,3	MCF-7	breast:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11824970	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828144	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs2513276	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs34009811	1.00[AMR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs55748366	1.00[AMR][1000 genomes]
rs55859249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55932241	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56715418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56748492	1.00[EUR][1000 genomes]
rs57488954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57557564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57669893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs73513277	1.00[EUR][1000 genomes]
rs754418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937163	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv972928	chr11:68344202-68352075	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:68313400-68356200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
8	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
9	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:68319800-68384000	Strong transcription	Liver	Liver
14	chr11:68321000-68361800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:68324400-68362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:68324600-68361600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:68325600-68361200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:68328800-68362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:68328800-68380600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:68330200-68355600	Strong transcription	HepG2	liver
22	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:68336800-68383800	Strong transcription	Dnd41	blood
25	chr11:68337000-68384000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:68337200-68360600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:68337200-68381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:68337200-68384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:68337400-68361800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:68337400-68383400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:68337400-68383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:68337600-68352600	Strong transcription	GM12878-XiMat	blood
33	chr11:68337600-68384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:68337800-68361600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:68338800-68360600	Strong transcription	Thymus	Thymus
36	chr11:68341800-68383400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:68342200-68385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:68344400-68352600	Weak transcription	Small Intestine	intestine
39	chr11:68345400-68352400	Weak transcription	Brain Germinal Matrix	brain
40	chr11:68347000-68360200	Strong transcription	Fetal Stomach	stomach
41	chr11:68347200-68351800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:68347400-68360200	Strong transcription	Fetal Intestine Small	intestine
43	chr11:68347600-68352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:68347600-68352400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:68347600-68358600	Weak transcription	Fetal Brain Male	brain
46	chr11:68347800-68354000	Weak transcription	Fetal Kidney	kidney
47	chr11:68347800-68356800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:68347800-68374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:68348000-68351600	Weak transcription	Esophagus	oesophagus
50	chr11:68348000-68352600	Weak transcription	Colonic Mucosa	Colon

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