Variant report

Variant	rs563715003
Chromosome Location	chr2:97617208-97617209
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	RFX5	chr2:97616977-97617238	HepG2	liver:	n/a	n/a
2	CTCF	chr2:97616935-97617247	GM12878	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
3	PAX5	chr2:97616884-97617223	GM12878	blood:	n/a	n/a
4	NRF1	chr2:97617009-97617363	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:97616965-97617218	GM13976	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
6	RAD21	chr2:97616886-97617262	A549	lung:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97617229-97617241
7	CTCF	chr2:97617060-97617210	NHLF	lung:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
8	CTCF	chr2:97616862-97617288	HepG2	liver:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
9	SIN3AK20	chr2:97616275-97618547	MCF-7	breast:	n/a	n/a
10	JUND	chr2:97616731-97617219	H1-hESC	embryonic stem cell:	n/a	chr2:97616835-97616846
11	CTCF	chr2:97616675-97617457	A549	lung:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
12	PAX5	chr2:97616963-97617255	GM12892	blood:	n/a	n/a
13	RAD21	chr2:97616924-97617255	K562	blood:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97617229-97617241
14	MAFK	chr2:97616624-97617209	K562	blood:	n/a	n/a
15	CTCF	chr2:97616936-97617249	A549	lung:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
16	CTCF	chr2:97616887-97617257	T-47D	breast:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
17	CTCF	chr2:97616955-97617259	H1-hESC	embryonic stem cell:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
18	TAF1	chr2:97616929-97617298	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr2:97616819-97617249	K562	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
20	MXI1	chr2:97616867-97617219	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr2:97616685-97617437	ECC-1	luminal epithelium:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
22	TBL1XR1	chr2:97616938-97617304	K562	blood:	n/a	n/a
23	CTCF	chr2:97616974-97617231	GM20000	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
24	ZNF143	chr2:97616907-97617271	K562	blood:	n/a	n/a
25	MAX	chr2:97616883-97617269	K562	blood:	n/a	n/a
26	YY1	chr2:97616872-97617339	HepG2	liver:	n/a	n/a
27	CTCF	chr2:97616964-97617243	Pancreas_OC	pancreas:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
28	CTCF	chr2:97616968-97617235	MCF-7	breast:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
29	CTCF	chr2:97616807-97617442	MCF-7	breast:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
30	CTCF	chr2:97616854-97617327	A549	lung:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
31	GTF2F1	chr2:97616889-97617240	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr2:97617043-97617277	HepG2	liver:	n/a	n/a
33	ZNF143	chr2:97616928-97617245	Hela-S3	cervix:	n/a	n/a
34	MYC	chr2:97616968-97617263	MCF-7	breast:	n/a	n/a
35	TEAD4	chr2:97616854-97617303	K562	blood:	n/a	n/a
36	CTBP2	chr2:97616744-97617379	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr2:97616955-97617235	Medullo	brain:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
38	SMC3	chr2:97616790-97617265	HepG2	liver:	n/a	chr2:97617084-97617098 chr2:97616817-97616831 chr2:97617064-97617071
39	RAD21	chr2:97616770-97617305	HepG2	liver:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
40	MAZ	chr2:97616727-97617268	K562	blood:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
41	MAX	chr2:97616962-97617277	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr2:97616922-97617223	HepG2	liver:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
43	ELF1	chr2:97616842-97617248	GM12878	blood:	n/a	n/a
44	CTCF	chr2:97616972-97617228	SK-N-SH_RA	brain:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
45	MYC	chr2:97617031-97617231	MCF10A-Er-Src	breast:	n/a	n/a
46	ELF1	chr2:97616821-97617340	GM12878	blood:	n/a	n/a
47	HCFC1	chr2:97616923-97617230	K562	blood:	n/a	n/a
48	MAX	chr2:97616773-97617450	H1-hESC	embryonic stem cell:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
49	POLR2A	chr2:97617057-97617233	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:97616964-97617240	GM10266	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099

No.	Distal block	Cell Line	Cell type
1	chr2:97533737..97536220-chr2:97612669..97617368,4	K562	blood:
2	chr2:97529274..97530551-chr2:97616477..97617259,4	MCF-7	breast:
3	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
4	chr2:97523433..97524405-chr2:97616568..97617773,7	MCF-7	breast:
5	chr2:97534288..97535347-chr2:97616704..97617840,3	MCF-7	breast:
6	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
7	chr2:97581932..97582913-chr2:97616904..97617546,3	MCF-7	breast:
8	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
9	chr2:97539206..97539881-chr2:97616937..97617560,2	MCF-7	breast:
10	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
11	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
12	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
13	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
14	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:
15	chr2:97593280..97593975-chr2:97616667..97617312,2	MCF-7	breast:
16	chr2:97534314..97535258-chr2:97616618..97617402,4	MCF-7	breast:
17	chr2:97523071..97525256-chr2:97616476..97617590,33	MCF-7	breast:
18	chr2:97523486..97525273-chr2:97616574..97617578,17	K562	blood:
19	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000168763	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97610400-97617400	Enhancers	Brain Substantia Nigra	brain
2	chr2:97611200-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:97612800-97620200	Enhancers	K562	blood
4	chr2:97613200-97617400	Enhancers	Brain Anterior Caudate	brain
5	chr2:97614800-97619800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr2:97615200-97618200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:97615400-97617400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
9	chr2:97615600-97617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:97615600-97617600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
12	chr2:97615600-97620800	Enhancers	Ovary	ovary
13	chr2:97615800-97617400	Enhancers	Fetal Heart	heart
14	chr2:97615800-97617600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
17	chr2:97616000-97617400	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr2:97616000-97617400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
21	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
24	chr2:97616200-97617400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:97616400-97617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:97616400-97617400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:97616400-97617400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:97616400-97617400	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr2:97616600-97617400	Enhancers	Primary T cells from cord blood	blood
30	chr2:97616600-97617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:97616600-97617400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:97616600-97617400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:97616600-97617400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:97616600-97617400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:97616600-97617400	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:97616600-97617400	Enhancers	Esophagus	oesophagus
37	chr2:97616600-97617400	Enhancers	Lung	lung
38	chr2:97616600-97617400	Enhancers	Right Atrium	heart
39	chr2:97616600-97617600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:97616600-97617600	Enhancers	HMEC	breast
41	chr2:97616800-97617400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:97616800-97617400	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:97616800-97617400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:97616800-97617400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:97616800-97617400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:97616800-97617400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:97616800-97617400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:97616800-97617400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:97616800-97617400	Enhancers	Pancreas	Pancrea
50	chr2:97616800-97617400	Enhancers	GM12878-XiMat	blood

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