Variant report

Variant	rs533437805
Chromosome Location	chr2:97616998-97616999
allele	C/T
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	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
5	RAD21	chr2:97616886-97617262	A549	lung:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97617229-97617241
6	CTCF	chr2:97616920-97617070	HMEC	breast:	n/a	n/a
7	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
8	SIN3AK20	chr2:97616275-97618547	MCF-7	breast:	n/a	n/a
9	JUND	chr2:97616731-97617219	H1-hESC	embryonic stem cell:	n/a	chr2:97616835-97616846
10	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
11	PAX5	chr2:97616963-97617255	GM12892	blood:	n/a	n/a
12	RAD21	chr2:97616924-97617255	K562	blood:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97617229-97617241
13	MAFK	chr2:97616624-97617209	K562	blood:	n/a	n/a
14	ZBTB7A	chr2:97616806-97617182	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	chr2:97616920-97617070	HCM	heart:	n/a	n/a
18	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
19	TAF1	chr2:97616929-97617298	H1-hESC	embryonic stem cell:	n/a	n/a
20	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
21	MXI1	chr2:97616867-97617219	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	ELK1	chr2:97616713-97617091	K562	blood:	n/a	n/a
24	TBL1XR1	chr2:97616938-97617304	K562	blood:	n/a	n/a
25	CTCF	chr2:97616980-97617130	HA-sp	spinal cord:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
26	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
27	ZNF143	chr2:97616907-97617271	K562	blood:	n/a	n/a
28	CTCF	chr2:97616980-97617130	HCM	heart:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
29	MAX	chr2:97616883-97617269	K562	blood:	n/a	n/a
30	YY1	chr2:97616872-97617339	HepG2	liver:	n/a	n/a
31	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
32	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
33	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
34	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
35	ZBTB7A	chr2:97616798-97617154	K562	blood:	n/a	n/a
36	GTF2F1	chr2:97616889-97617240	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr2:97616898-97617172	K562	blood:	n/a	n/a
38	CTCF	chr2:97616980-97617130	GM12864	blood:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
39	ZNF143	chr2:97616928-97617245	Hela-S3	cervix:	n/a	n/a
40	GTF2F1	chr2:97616850-97617153	K562	blood:	n/a	n/a
41	MYC	chr2:97616968-97617263	MCF-7	breast:	n/a	n/a
42	TEAD4	chr2:97616854-97617303	K562	blood:	n/a	n/a
43	CTBP2	chr2:97616744-97617379	H1-hESC	embryonic stem cell:	n/a	n/a
44	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
45	SMC3	chr2:97616790-97617265	HepG2	liver:	n/a	chr2:97617084-97617098 chr2:97616817-97616831 chr2:97617064-97617071
46	RAD21	chr2:97616770-97617305	HepG2	liver:	n/a	chr2:97617080-97617099 chr2:97617089-97617098 chr2:97617084-97617098 chr2:97616796-97616805 chr2:97617229-97617241
47	CTCF	chr2:97616980-97617130	HCT-116	colon:	n/a	chr2:97617084-97617097 chr2:97617077-97617098 chr2:97617082-97617100 chr2:97617089-97617096 chr2:97617084-97617097 chr2:97617083-97617099
48	CTCF	chr2:97616940-97617090	NHEK	skin:	n/a	n/a
49	MAZ	chr2:97616727-97617268	K562	blood:	n/a	chr2:97616816-97616827 chr2:97616815-97616823 chr2:97616817-97616826
50	MAX	chr2:97616962-97617277	Hela-S3	cervix:	n/a	n/a

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	chr2:97581932..97582913-chr2:97616904..97617546,3	MCF-7	breast:
7	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
8	chr2:97530625..97533961-chr2:97614118..97617148,3	K562	blood:
9	chr2:97490026..97490966-chr2:97616219..97617186,2	MCF-7	breast:
10	chr2:97539206..97539881-chr2:97616937..97617560,2	MCF-7	breast:
11	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
12	chr2:97530248..97531059-chr2:97616574..97617127,3	MCF-7	breast:
13	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
14	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
15	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:
16	chr2:97593280..97593975-chr2:97616667..97617312,2	MCF-7	breast:
17	chr2:97534314..97535258-chr2:97616618..97617402,4	MCF-7	breast:
18	chr2:97523071..97525256-chr2:97616476..97617590,33	MCF-7	breast:
19	chr2:97523486..97525273-chr2:97616574..97617578,17	K562	blood:
20	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	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:89 , 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	chr2:97615400-97617200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr2:97615400-97617400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
10	chr2:97615600-97617000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:97615600-97617200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:97615600-97617200	Bivalent Enhancer	Placenta	Placenta
13	chr2:97615600-97617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:97615600-97617600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
16	chr2:97615600-97620800	Enhancers	Ovary	ovary
17	chr2:97615800-97617200	Enhancers	Spleen	Spleen
18	chr2:97615800-97617400	Enhancers	Fetal Heart	heart
19	chr2:97615800-97617600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
22	chr2:97616000-97617200	Enhancers	Right Ventricle	heart
23	chr2:97616000-97617400	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr2:97616000-97617400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
27	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
30	chr2:97616200-97617000	Enhancers	Brain Germinal Matrix	brain
31	chr2:97616200-97617200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:97616200-97617400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:97616400-97617000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:97616400-97617000	Enhancers	Fetal Intestine Large	intestine
35	chr2:97616400-97617000	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr2:97616400-97617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:97616400-97617400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:97616400-97617400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:97616400-97617400	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr2:97616600-97617000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr2:97616600-97617000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:97616600-97617000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:97616600-97617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:97616600-97617000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr2:97616600-97617000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:97616600-97617000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:97616600-97617000	Enhancers	Liver	Liver
48	chr2:97616600-97617000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:97616600-97617000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:97616600-97617000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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