Variant report

Variant	rs35963002
Chromosome Location	chr6:31561548-31561549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:31561430-31561602	GM12891	blood:	n/a	n/a
2	CTCF	chr6:31561457-31561566	GM19240	blood:	n/a	n/a
3	CTCF	chr6:31561440-31561590	GM12875	blood:	n/a	n/a
4	CTCF	chr6:31561490-31561550	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:31561458-31561585	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:31561498-31561559	GM12892	blood:	n/a	n/a
7	CTCF	chr6:31561400-31561550	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr6:31561451-31561589	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:31561467-31561584	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:31561503-31561612	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:31561468-31561552	K562	blood:	n/a	n/a
12	CTCF	chr6:31561481-31561571	GM19239	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31561515-31561565	HCM	heart:	n/a
2	chr6:31561515-31561565	NB4	blood:	n/a
3	chr6:31561515-31561565	SAEC	small airway:	n/a
4	chr6:31561515-31561565	SK-N-SH_RA	brain:	n/a
5	chr6:31561515-31561565	HRPEpiC	eye:	n/a
6	chr6:31561515-31561565	BJ	skin:	n/a
7	chr6:31561515-31561565	HEK293	kidney:	embryo
8	chr6:31561515-31561565	AG09309	skin:	n/a
9	chr6:31561515-31561565	SK-N-MC	brain:	n/a
10	chr6:31561515-31561565	HRCEpiC	kidney:	n/a
11	chr6:31561515-31561565	HL-60	blood:	n/a
12	chr6:31561515-31561565	A549	lung:	n/a
13	chr6:31561515-31561565	PANC-1	pancreas:	n/a
14	chr6:31561515-31561565	HCF	heart:	n/a
15	chr6:31561515-31561565	Jurkat	blood:	n/a
16	chr6:31561515-31561565	PFSK-1	brain:	n/a
17	chr6:31561515-31561565	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:31561515-31561565	NT2-D1	testis:	n/a
19	chr6:31561515-31561565	AG04449	skin:	fetal
20	chr6:31561515-31561565	T-47D	breast:	n/a
21	chr6:31561515-31561565	HEEpiC	esophagus:	n/a
22	chr6:31561515-31561565	AG09319	gingival:	n/a
23	chr6:31561515-31561565	AG04450	lung:	fetal
24	chr6:31561515-31561565	GM12878	blood:	n/a
25	chr6:31561515-31561565	Caco-2	colon:	n/a
26	chr6:31561515-31561565	IMR90	lung:	fetal
27	chr6:31561515-31561565	AG10803	skin:	n/a
28	chr6:31561515-31561565	MCF10A-Er-Src	breast:	n/a
29	chr6:31561515-31561565	HRE	kidney:	n/a
30	chr6:31561515-31561565	Hela-S3	cervix:	n/a
31	chr6:31561515-31561565	HAEpiC	amniotic membrane:	n/a
32	chr6:31561515-31561565	HCT-116	colon:	n/a
33	chr6:31561515-31561565	ProgFib	skin:	n/a
34	chr6:31561515-31561565	GM06990	blood:	n/a
35	chr6:31561515-31561565	HCPEpiC	choroid plexus:	n/a
36	chr6:31561515-31561565	GM12892	blood:	n/a
37	chr6:31561515-31561565	HIPEpiC	eye:	n/a
38	chr6:31561515-31561565	NHDF-neo	bronchial:	n/a
39	chr6:31561515-31561565	H1-hESC	embryonic stem cell:	embryo
40	chr6:31561515-31561565	HNPCEpiC	eye:	n/a
41	chr6:31561515-31561565	NHBE	bronchial:	n/a
42	chr6:31561515-31561565	BE2_C	brain:	n/a
43	chr6:31561515-31561565	HMEC	breast:	n/a
44	chr6:31561515-31561565	HUVEC	blood vessel:	n/a
45	chr6:31561515-31561565	SKMC	muscle:	n/a
46	chr6:31561515-31561565	LNCaP	prostate:	n/a
47	chr6:31561515-31561565	ECC-1	luminal epithelium:	n/a
48	chr6:31561515-31561565	U87	brain:	n/a
49	chr6:31561515-31561565	K562	blood:	n/a
50	chr6:31561515-31561565	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31513116..31516827-chr6:31558104..31561639,4	K562	blood:
2	chr6:31560247..31562390-chr6:31587195..31589122,2	K562	blood:
3	chr6:31513113..31516557-chr6:31559255..31561759,3	K562	blood:
4	chr6:31554501..31557206-chr6:31559378..31562333,2	MCF-7	breast:
5	chr6:31509610..31511925-chr6:31559593..31562422,2	K562	blood:
6	chr6:31555093..31557272-chr6:31561028..31563180,2	K562	blood:

No data

Variant related genes	Relation type
NCR3	TF binding region
NCR3	CpG island
ENSG00000204482	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000198563	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11552113	0.83[ASN][1000 genomes]
rs13194402	0.83[ASN][1000 genomes]
rs13197153	0.86[ASN][1000 genomes]
rs13204983	0.83[ASN][1000 genomes]
rs13211189	1.00[ASN][1000 genomes]
rs13211368	1.00[ASN][1000 genomes]
rs13217049	0.86[ASN][1000 genomes]
rs17200810	1.00[ASN][1000 genomes]
rs3093672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038095	0.83[ASN][1000 genomes]
rs34287387	0.83[ASN][1000 genomes]
rs34346286	0.86[ASN][1000 genomes]
rs34422607	0.83[ASN][1000 genomes]
rs34451538	1.00[ASN][1000 genomes]
rs34568880	1.00[ASN][1000 genomes]
rs35012663	0.83[ASN][1000 genomes]
rs35309880	0.86[ASN][1000 genomes]
rs35340190	1.00[ASN][1000 genomes]
rs35700586	0.83[ASN][1000 genomes]
rs35969216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267058	0.83[ASN][1000 genomes]
rs41273252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4248161	0.86[EUR][1000 genomes]
rs4647191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563338	0.86[ASN][1000 genomes]
rs71563350	0.86[ASN][1000 genomes]
rs71563354	0.83[ASN][1000 genomes]
rs71563359	0.83[ASN][1000 genomes]
rs71563361	0.83[ASN][1000 genomes]
rs71563362	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
4	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
5	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
6	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
8	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
10	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
12	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
13	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
14	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
15	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31550000-31583200	Weak transcription	Right Atrium	heart
2	chr6:31557600-31566200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:31559200-31562400	Enhancers	Fetal Thymus	thymus
4	chr6:31560200-31561600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr6:31560200-31561600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:31560200-31561800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:31560200-31561800	Enhancers	K562	blood
8	chr6:31560200-31562600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:31560400-31561600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:31560800-31561800	Enhancers	Colonic Mucosa	Colon
11	chr6:31560800-31564600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:31560800-31566000	Weak transcription	Spleen	Spleen
13	chr6:31560800-31568200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:31561000-31561600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:31561000-31561800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:31561000-31561800	Enhancers	Thymus	Thymus
17	chr6:31561000-31562400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:31561000-31564400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:31561000-31564400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:31561000-31566800	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:31561000-31566800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:31561000-31568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:31561200-31561600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:31561200-31561800	Enhancers	GM12878-XiMat	blood
25	chr6:31561200-31562600	Enhancers	Primary T cells from cord blood	blood
26	chr6:31561200-31562600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:31561200-31562800	Enhancers	Primary B cells from cord blood	blood
28	chr6:31561200-31563000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:31561200-31564600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:31561200-31565400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:31561200-31565400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr6:31561200-31566000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:31561200-31566000	Weak transcription	Dnd41	blood
34	chr6:31561200-31566800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:31561200-31566800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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