Variant report

Variant	rs13203743
Chromosome Location	chr6:36727258-36727259
allele	A/C
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	CTCF	chr6:36726860-36727262	H1-hESC	embryonic stem cell:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
2	CTCF	chr6:36726983-36727268	Kidney_OC	kidney:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
3	CTCF	chr6:36727006-36727273	H1-hESC	embryonic stem cell:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
4	MAZ	chr6:36726946-36727279	HepG2	liver:	n/a	n/a
5	RAD21	chr6:36726686-36727490	HCT-116	colon:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
6	CTCF	chr6:36726577-36727594	SK-N-SH	brain:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
7	CTCF	chr6:36726843-36727357	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
8	CTCF	chr6:36726985-36727276	Pancreas_OC	pancreas:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
9	JUN	chr6:36726589-36727430	K562	blood:	n/a	chr6:36727155-36727165 chr6:36727155-36727165
10	RAD21	chr6:36726937-36727297	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
11	CTCF	chr6:36726988-36727284	T-47D	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
12	RAD21	chr6:36726824-36727376	ECC-1	luminal epithelium:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
13	SMC3	chr6:36726902-36727313	Hela-S3	cervix:	n/a	chr6:36727119-36727133
14	CTCF	chr6:36726964-36727283	GM12878	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
15	CTCF	chr6:36726991-36727290	GM10248	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
16	CTCF	chr6:36726965-36727289	Spleen_OC	spleen:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
17	ZNF143	chr6:36727011-36727294	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:36727002-36727265	GM13976	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
19	CTCF	chr6:36726990-36727287	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
20	CTCF	chr6:36726987-36727273	LNCaP	prostate:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
21	FOXM1	chr6:36726884-36727328	GM12878	blood:	n/a	n/a
22	CTCF	chr6:36726995-36727272	Fibrobl	skin:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
23	CTCF	chr6:36726995-36727275	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
24	RAD21	chr6:36726782-36727265	HepG2	liver:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
25	RAD21	chr6:36726793-36727415	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
26	SMC3	chr6:36726569-36727456	SK-N-SH	brain:	n/a	chr6:36727119-36727133
27	CTCF	chr6:36726947-36727334	K562	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
28	CTCF	chr6:36726986-36727268	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
29	CTCF	chr6:36726975-36727301	GM19238	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
30	CTCF	chr6:36726988-36727279	K562	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
31	RAD21	chr6:36726914-36727309	H1-hESC	embryonic stem cell:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
32	RCOR1	chr6:36727001-36727275	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr6:36726950-36727274	HepG2	liver:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
34	RAD21	chr6:36726623-36727383	SK-N-SH	brain:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
35	BHLHE40	chr6:36726998-36727261	HepG2	liver:	n/a	n/a
36	CTCF	chr6:36726975-36727277	GM10266	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
37	CTCF	chr6:36726983-36727286	GM19240	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
38	RFX5	chr6:36726935-36727269	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr6:36726935-36727291	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr6:36726984-36727341	HepG2	liver:	n/a	n/a
41	RAD21	chr6:36726856-36727268	MCF-7	breast:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
42	RUNX3	chr6:36726877-36727282	GM12878	blood:	n/a	n/a
43	CTCF	chr6:36726905-36727344	GM12878	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
44	FOXP2	chr6:36726902-36727299	SK-N-MC	brain:	n/a	n/a
45	CTCF	chr6:36726987-36727282	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
46	RAD21	chr6:36726742-36727368	MCF-7	breast:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
47	ZNF143	chr6:36726928-36727310	GM12878	blood:	n/a	n/a
48	CTCF	chr6:36726995-36727277	Hela-S3	cervix:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
49	RAD21	chr6:36726812-36727411	H1-hESC	embryonic stem cell:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
50	CTCF	chr6:36726915-36727323	IMR90	lung:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134

No.	Distal block	Cell Line	Cell type
1	chr6:36582648..36583548-chr6:36726442..36727575,5	MCF-7	breast:
2	chr6:36692117..36693169-chr6:36726597..36727520,3	MCF-7	breast:
3	chr6:36717692..36718483-chr6:36726667..36727520,2	K562	blood:
4	chr6:36589397..36591575-chr6:36726645..36728482,2	MCF-7	breast:
5	chr6:36589945..36592639-chr6:36726671..36728710,2	K562	blood:
6	chr6:36726638..36727646-chr6:36738357..36739663,3	K562	blood:
7	chr6:36725564..36727264-chr6:36727766..36730682,2	K562	blood:
8	chr6:36561839..36564756-chr6:36723772..36727529,4	MCF-7	breast:
9	chr6:36726753..36730019-chr6:36730894..36734737,3	K562	blood:
10	chr6:36590930..36591805-chr6:36726654..36727603,2	MCF-7	breast:
11	chr6:36726691..36727400-chr6:36985380..36986272,2	K562	blood:
12	chr6:36692374..36694188-chr6:36726056..36729043,2	MCF-7	breast:
13	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
14	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
15	chr6:36590960..36591893-chr6:36725819..36727563,13	K562	blood:
16	chr6:36590919..36591472-chr6:36727065..36727610,2	MCF-7	breast:
17	chr6:36656125..36657871-chr6:36725735..36728109,2	MCF-7	breast:
18	chr6:36670725..36674166-chr6:36726971..36730200,3	MCF-7	breast:

Variant related genes	Relation type
CPNE5	TF binding region
ENSG00000124762	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10807175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947628	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12198675	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13193217	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs236426	0.90[ASN][1000 genomes]
rs236445	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4557518	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714009	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs763048	0.88[YRI][hapmap]
rs916295	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs916297	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs916304	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9380596	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs9380598	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr6:36721400-36728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:36721800-36733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:36722800-36727600	Enhancers	Stomach Mucosa	stomach
6	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
7	chr6:36723800-36727400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:36723800-36736200	Weak transcription	Right Atrium	heart
9	chr6:36724000-36728200	Weak transcription	Fetal Stomach	stomach
10	chr6:36724000-36736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:36724800-36734400	Weak transcription	Right Ventricle	heart
12	chr6:36725000-36727400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:36725200-36727600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:36725400-36727600	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:36725600-36727600	Enhancers	GM12878-XiMat	blood
16	chr6:36725600-36727800	Enhancers	Primary B cells from cord blood	blood
17	chr6:36725600-36730000	Weak transcription	Spleen	Spleen
18	chr6:36725600-36733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:36725800-36727400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:36725800-36728600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:36725800-36735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:36726000-36736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:36726400-36727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:36726400-36727600	Enhancers	Colonic Mucosa	Colon
25	chr6:36726600-36727400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:36726600-36727400	Enhancers	Dnd41	blood
27	chr6:36726600-36727600	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:36726600-36727600	Bivalent Enhancer	HepG2	liver
29	chr6:36726600-36728000	Weak transcription	Esophagus	oesophagus
30	chr6:36726600-36729600	Enhancers	Brain Anterior Caudate	brain
31	chr6:36726600-36729800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:36726800-36727400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:36726800-36727400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:36726800-36729600	Enhancers	Brain Angular Gyrus	brain
35	chr6:36726800-36729600	Enhancers	Brain Hippocampus Middle	brain
36	chr6:36726800-36729600	Enhancers	Brain Substantia Nigra	brain
37	chr6:36726800-36730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:36726800-36733800	Weak transcription	Pancreas	Pancrea
39	chr6:36727000-36727400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr6:36727000-36727400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:36727000-36730400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:36727000-36732000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:36727000-36732000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:36727000-36732000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:36727000-36732400	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:36727000-36733400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:36727000-36733800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:36727200-36728200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:36727200-36734000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:36727200-36736400	Weak transcription	Rectal Mucosa Donor 29	rectum

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