Variant report

Variant	rs73210078
Chromosome Location	chr3:195906420-195906421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195871413..195873461-chr3:195905965..195908112,2	K562	blood:
2	chr3:195801020..195810289-chr3:195902611..195915225,28	K562	blood:
3	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
4	chr3:195903618..195905705-chr3:195906197..195908381,3	K562	blood:
5	chr3:195854603..195857572-chr3:195905057..195907261,2	K562	blood:
6	chr3:195799311..195801331-chr3:195903536..195907265,3	MCF-7	breast:
7	chr3:195865618..195868542-chr3:195904431..195907406,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56699931	0.95[EUR][1000 genomes]
rs56850780	0.81[EUR][1000 genomes]
rs59412512	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60526982	0.91[EUR][1000 genomes]
rs6770218	0.91[EUR][1000 genomes]
rs73210076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73210077	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73210081	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73210084	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210095	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73212105	0.95[EUR][1000 genomes]
rs73212119	0.90[EUR][1000 genomes]
rs73212122	0.93[EUR][1000 genomes]
rs73212124	0.93[EUR][1000 genomes]
rs73212127	0.95[EUR][1000 genomes]
rs73891224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs870070	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	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
9	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	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
11	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	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
17	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	nsv1004194	chr3:195864466-195919077	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv536891	chr3:195864466-195919077	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195897000-195909000	Weak transcription	Spleen	Spleen
2	chr3:195897200-195906600	Weak transcription	Pancreas	Pancrea
3	chr3:195901400-195911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:195904000-195907200	Enhancers	Fetal Intestine Large	intestine
5	chr3:195904200-195907200	Enhancers	Fetal Intestine Small	intestine
6	chr3:195904400-195907200	Enhancers	Stomach Mucosa	stomach
7	chr3:195904400-195909400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:195904800-195913600	Weak transcription	Right Atrium	heart
9	chr3:195905200-195906800	Weak transcription	Psoas Muscle	Psoas
10	chr3:195905400-195906600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:195905400-195907200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:195905400-195907400	Enhancers	Colonic Mucosa	Colon
13	chr3:195905600-195906600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:195905600-195907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:195905600-195907200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:195905600-195907400	Enhancers	Fetal Brain Male	brain
17	chr3:195905600-195907600	Enhancers	Fetal Muscle Leg	muscle
18	chr3:195905600-195910800	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:195905800-195906600	Enhancers	Primary B cells from cord blood	blood
20	chr3:195905800-195906600	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:195905800-195907000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:195905800-195907000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:195906000-195906600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr3:195906000-195906600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:195906000-195906600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:195906000-195906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:195906000-195907200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr3:195906000-195907200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:195906000-195907200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:195906000-195907200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr3:195906000-195907200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr3:195906000-195907200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr3:195906000-195907200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:195906000-195907400	Flanking Active TSS	GM12878-XiMat	blood
35	chr3:195906000-195907600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:195906200-195906600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:195906200-195906600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:195906200-195906600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:195906200-195906600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:195906200-195906600	Enhancers	NHDF-Ad	bronchial
41	chr3:195906200-195906600	Flanking Active TSS	NHEK	skin
42	chr3:195906200-195906800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:195906200-195906800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr3:195906200-195906800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:195906200-195907000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:195906200-195907000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:195906200-195907000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr3:195906200-195907000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr3:195906200-195907000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr3:195906200-195907000	Active TSS	Rectal Smooth Muscle	rectum

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