Variant report

Variant	rs573104021
Chromosome Location	chr3:195934458-195934459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:195934191-195934468	K562	blood:	n/a	n/a
2	IRF1	chr3:195933924-195934471	K562	blood:	n/a	n/a
3	TBP	chr3:195934172-195934494	K562	blood:	n/a	n/a
4	ZBTB7A	chr3:195933761-195934538	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr3:195934075-195934606	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195934411-195934461	CMK	blood:	n/a
2	chr3:195934411-195934461	AG04450	lung:	fetal
3	chr3:195934411-195934461	K562	blood:	n/a
4	chr3:195934411-195934461	HCF	heart:	n/a
5	chr3:195934411-195934461	AG09319	gingival:	n/a
6	chr3:195934411-195934461	LNCaP	prostate:	n/a
7	chr3:195934411-195934461	ProgFib	skin:	n/a
8	chr3:195934411-195934461	HCPEpiC	choroid plexus:	n/a
9	chr3:195934411-195934461	HUVEC	blood vessel:	n/a
10	chr3:195934411-195934461	MCF10A-Er-Src	breast:	n/a
11	chr3:195934411-195934461	SK-N-MC	brain:	n/a
12	chr3:195934411-195934461	HMEC	breast:	n/a
13	chr3:195934411-195934461	PANC-1	pancreas:	n/a
14	chr3:195934411-195934461	AG10803	skin:	n/a
15	chr3:195934411-195934461	Hela-S3	cervix:	n/a
16	chr3:195934411-195934461	NB4	blood:	n/a
17	chr3:195934411-195934461	NHDF-neo	bronchial:	n/a
18	chr3:195934411-195934461	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:195934411-195934461	HepG2	liver:	n/a
20	chr3:195934411-195934461	HIPEpiC	eye:	n/a
21	chr3:195934411-195934461	HRPEpiC	eye:	n/a
22	chr3:195934411-195934461	HEEpiC	esophagus:	n/a
23	chr3:195934411-195934461	MCF-7	breast:	n/a
24	chr3:195934411-195934461	HRCEpiC	kidney:	n/a
25	chr3:195934411-195934461	SK-N-SH_RA	brain:	n/a
26	chr3:195934411-195934461	AG04449	skin:	fetal
27	chr3:195934411-195934461	PFSK-1	brain:	n/a
28	chr3:195934411-195934461	HL-60	blood:	n/a
29	chr3:195934411-195934461	SK-N-SH	brain:	n/a
30	chr3:195934411-195934461	GM12878	blood:	n/a
31	chr3:195934411-195934461	RPTEC	kidney:	n/a
32	chr3:195934411-195934461	HCT-116	colon:	n/a
33	chr3:195934411-195934461	HEK293	kidney:	embryo
34	chr3:195934411-195934461	SKMC	muscle:	n/a
35	chr3:195934411-195934461	Jurkat	blood:	n/a
36	chr3:195934411-195934461	PrEC	prostate:	n/a
37	chr3:195934411-195934461	U87	brain:	n/a
38	chr3:195934411-195934461	BJ	skin:	n/a
39	chr3:195934411-195934461	HCM	heart:	n/a
40	chr3:195934411-195934461	HAEpiC	amniotic membrane:	n/a
41	chr3:195934411-195934461	H1-hESC	embryonic stem cell:	embryo
42	chr3:195934411-195934461	AG09309	skin:	n/a
43	chr3:195934411-195934461	GM06990	blood:	n/a
44	chr3:195934411-195934461	ovcar-3	ovarian:	n/a
45	chr3:195934411-195934461	HRE	kidney:	n/a
46	chr3:195934411-195934461	A549	lung:	n/a
47	chr3:195934411-195934461	NH-A	brain:	n/a
48	chr3:195934411-195934461	SAEC	small airway:	n/a
49	chr3:195934411-195934461	ECC-1	luminal epithelium:	n/a
50	chr3:195934411-195934461	Caco-2	colon:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195819342..195820879-chr3:195934319..195935878,2	MCF-7	breast:
3	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
4	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
5	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
6	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
7	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
8	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
9	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
10	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
11	chr3:195934241..195936316-chr3:196228788..196231012,3	K562	blood:
12	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
13	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
14	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
15	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
16	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC51A	TF binding region
SLC51A	CpG island
ENSG00000163959	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000163961	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000222335	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
10	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
14	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
15	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
24	esv3414871	chr3:195933780-195935853	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195932800-195934800	Weak transcription	HepG2	liver
2	chr3:195933600-195935200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr3:195933800-195934800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:195933800-195934800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:195933800-195934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:195933800-195935000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr3:195933800-195935000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:195933800-195935000	Enhancers	GM12878-XiMat	blood
10	chr3:195933800-195935200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:195933800-195935400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr3:195933800-195935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:195934000-195934800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:195934000-195934800	Active TSS	Liver	Liver
15	chr3:195934000-195934800	Active TSS	NH-A	brain
16	chr3:195934000-195935000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:195934000-195935000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:195934000-195935000	Active TSS	Primary T cells from cord blood	blood
19	chr3:195934000-195935000	Active TSS	Brain Anterior Caudate	brain
20	chr3:195934000-195935000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:195934000-195935000	Active TSS	Rectal Smooth Muscle	rectum
22	chr3:195934000-195935000	Active TSS	Right Atrium	heart
23	chr3:195934000-195935200	Enhancers	Primary B cells from cord blood	blood
24	chr3:195934000-195935200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:195934000-195935200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:195934000-195935400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:195934000-195935600	Enhancers	Esophagus	oesophagus
28	chr3:195934200-195934600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr3:195934200-195934600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr3:195934200-195934800	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr3:195934200-195934800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr3:195934200-195934800	Active TSS	Brain Angular Gyrus	brain
33	chr3:195934200-195934800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr3:195934200-195934800	Active TSS	Thymus	Thymus
35	chr3:195934200-195934800	Active TSS	K562	blood
36	chr3:195934200-195935000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:195934200-195935000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:195934200-195935000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:195934200-195935000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:195934200-195935000	Active TSS	Brain Cingulate Gyrus	brain
41	chr3:195934200-195935000	Active TSS	Brain Hippocampus Middle	brain
42	chr3:195934200-195935000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:195934200-195935000	Active TSS	Fetal Intestine Large	intestine
44	chr3:195934200-195935000	Active TSS	Left Ventricle	heart
45	chr3:195934200-195935200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:195934200-195935200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:195934200-195935200	Active TSS	Fetal Brain Female	brain
48	chr3:195934200-195935200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr3:195934200-195935200	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:195934200-195935400	Active TSS	Duodenum Mucosa	Duodenum

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