Variant report

Variant	rs373199675
Chromosome Location	chr3:48959417-48959418
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48959375-48959425	NHBE	bronchial:	n/a
2	chr3:48959375-48959425	HRPEpiC	eye:	n/a
3	chr3:48959375-48959425	GM12891	blood:	n/a
4	chr3:48959375-48959425	HCT-116	colon:	n/a
5	chr3:48959375-48959425	Hepatocyte	liver:	n/a
6	chr3:48959375-48959425	HepG2	liver:	n/a
7	chr3:48959375-48959425	SKMC	muscle:	n/a
8	chr3:48959375-48959425	AoSMC	blood vessel:	n/a
9	chr3:48959375-48959425	NB4	blood:	n/a
10	chr3:48959375-48959425	Caco-2	colon:	n/a
11	chr3:48959375-48959425	HRCEpiC	kidney:	n/a
12	chr3:48959375-48959425	H1-hESC	embryonic stem cell:	embryo
13	chr3:48959375-48959425	NHDF-neo	bronchial:	n/a
14	chr3:48959375-48959425	AG10803	skin:	n/a
15	chr3:48959375-48959425	HEEpiC	esophagus:	n/a
16	chr3:48959375-48959425	GM12878	blood:	n/a
17	chr3:48959375-48959425	SK-N-SH_RA	brain:	n/a
18	chr3:48959375-48959425	GM12892	blood:	n/a
19	chr3:48959375-48959425	HMEC	breast:	n/a
20	chr3:48959375-48959425	T-47D	breast:	n/a
21	chr3:48959375-48959425	HL-60	blood:	n/a
22	chr3:48959375-48959425	HEK293	kidney:	embryo
23	chr3:48959375-48959425	PrEC	prostate:	n/a
24	chr3:48959375-48959425	GM06990	blood:	n/a
25	chr3:48959375-48959425	HCM	heart:	n/a
26	chr3:48959375-48959425	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:48959375-48959425	AG04449	skin:	fetal
28	chr3:48959375-48959425	HUVEC	blood vessel:	n/a
29	chr3:48959375-48959425	HRE	kidney:	n/a
30	chr3:48959375-48959425	MCF10A-Er-Src	breast:	n/a
31	chr3:48959375-48959425	MCF-7	breast:	n/a
32	chr3:48959375-48959425	HNPCEpiC	eye:	n/a
33	chr3:48959375-48959425	ProgFib	skin:	n/a
34	chr3:48959375-48959425	HAEpiC	amniotic membrane:	n/a
35	chr3:48959375-48959425	HCF	heart:	n/a
36	chr3:48959375-48959425	SAEC	small airway:	n/a
37	chr3:48959375-48959425	AG09309	skin:	n/a
38	chr3:48959375-48959425	SK-N-SH	brain:	n/a
39	chr3:48959375-48959425	HIPEpiC	eye:	n/a
40	chr3:48959375-48959425	PFSK-1	brain:	n/a
41	chr3:48959375-48959425	U87	brain:	n/a
42	chr3:48959375-48959425	AG09319	gingival:	n/a
43	chr3:48959375-48959425	LNCaP	prostate:	n/a
44	chr3:48959375-48959425	K562	blood:	n/a
45	chr3:48959375-48959425	SK-N-MC	brain:	n/a
46	chr3:48959375-48959425	NH-A	brain:	n/a
47	chr3:48959375-48959425	BJ	skin:	n/a
48	chr3:48959375-48959425	GM19239	blood:	n/a
49	chr3:48959375-48959425	PANC-1	pancreas:	n/a
50	chr3:48959375-48959425	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
2	chr3:48752504..48754863-chr3:48957920..48960085,2	K562	blood:

No data

Variant related genes	Relation type
ARIH2	CpG island
ARIH2OS	CpG island
ENSG00000207605	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000068745	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv980012	chr3:48935037-48963512	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
4	esv3394753	chr3:48956248-48960046	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3340246	chr3:48956448-48960646	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3461083	chr3:48956973-48960121	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3346770	chr3:48957098-48959796	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv2473053	chr3:48957279-48959505	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	esv3461082	chr3:48957598-48959446	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
10	esv3461087	chr3:48957674-48959474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48957200-48965000	Weak transcription	Small Intestine	intestine
2	chr3:48957400-48961400	Weak transcription	Ovary	ovary
3	chr3:48957400-49003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:48957600-48959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:48957600-48961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:48957600-48961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:48957600-48964400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:48957600-48964400	Weak transcription	HSMMtube	muscle
9	chr3:48957600-48965000	Weak transcription	Fetal Kidney	kidney
10	chr3:48957600-48974400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:48957800-48959600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:48957800-48959800	Enhancers	Primary B cells from cord blood	blood
13	chr3:48957800-48961000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:48957800-48961000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:48957800-48961200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:48957800-48961200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:48957800-48961200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:48957800-48961200	Weak transcription	Colonic Mucosa	Colon
19	chr3:48957800-48961200	Weak transcription	NH-A	brain
20	chr3:48957800-48961400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:48957800-48961400	Weak transcription	NHEK	skin
22	chr3:48957800-48961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:48957800-48963000	Weak transcription	NHDF-Ad	bronchial
24	chr3:48957800-48963400	Weak transcription	HSMM	muscle
25	chr3:48957800-48964000	Weak transcription	HMEC	breast
26	chr3:48957800-48964600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:48957800-48964600	Weak transcription	Aorta	Aorta
28	chr3:48957800-48965000	Weak transcription	Right Ventricle	heart
29	chr3:48958000-48963600	Weak transcription	A549	lung
30	chr3:48958000-48964400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:48958000-48964400	Weak transcription	Stomach Mucosa	stomach
32	chr3:48958000-48965000	Weak transcription	Fetal Brain Male	brain
33	chr3:48958400-48959800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:48958400-48964000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:48958800-48959600	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr3:48958800-48959600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:48958800-48959800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:48958800-48959800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:48958800-48960000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:48958800-48960000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:48958800-48960000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:48958800-48960000	Genic enhancers	Dnd41	blood
43	chr3:48958800-48965400	Strong transcription	Fetal Intestine Small	intestine
44	chr3:48959000-48959600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr3:48959000-48959600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:48959000-48959600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:48959000-48959600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:48959000-48959600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:48959000-48959600	Genic enhancers	Colon Smooth Muscle	Colon
50	chr3:48959000-48959600	Genic enhancers	Duodenum Mucosa	Duodenum

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