Variant report

Variant	rs10197162
Chromosome Location	chr2:111425009-111425010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111422527..111426501-chr2:111427034..111430366,4	K562	blood:
2	chr2:111422408..111425230-chr2:111426380..111428328,2	K562	blood:

Variant related genes	Relation type
ENSG00000169679	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10203286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10204844	1.00[ASW][hapmap]
rs11894642	0.86[ASW][hapmap]
rs13404825	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412431	0.88[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv2752453	chr2:110834561-111426338	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2751813	chr2:110834561-111447446	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
4	nsv1009823	chr2:110841714-111425270	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv535877	chr2:110841714-111425270	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
6	esv994221	chr2:110847086-111453103	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv436279	chr2:110850697-111453448	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv435724	chr2:110851622-111453839	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3502444	chr2:110852415-111453435	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3460817	chr2:110852627-111453192	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3502445	chr2:110852643-111453216	Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	esv3460819	chr2:110852686-111453177	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3460820	chr2:110852686-111453177	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv3502446	chr2:110852704-111453148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3502447	chr2:110852704-111453148	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv874836	chr2:110983050-111463391	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	nsv874837	chr2:111367727-111463391	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv582696	chr2:111367727-111469138	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv582697	chr2:111386233-111451816	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
21	nsv582698	chr2:111387676-111452539	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription 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	8 gene(s)	inside rSNPs	diseases
23	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111390800-111435200	Weak transcription	Gastric	stomach
2	chr2:111391000-111435200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:111392000-111433800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:111392200-111426600	Strong transcription	Fetal Thymus	thymus
5	chr2:111392200-111432200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:111393000-111432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:111393400-111434600	Weak transcription	Fetal Kidney	kidney
8	chr2:111394000-111432600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:111394400-111431200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:111394400-111432200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:111394400-111432200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:111394400-111432400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:111395200-111432400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:111397800-111434600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:111403000-111432200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:111403000-111432200	Strong transcription	K562	blood
17	chr2:111403000-111432600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:111403400-111428400	Strong transcription	GM12878-XiMat	blood
19	chr2:111404600-111432000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:111405000-111432200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:111405200-111432400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:111405400-111427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:111405600-111432200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:111405800-111431200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:111405800-111435200	Weak transcription	Esophagus	oesophagus
26	chr2:111406600-111432400	Weak transcription	Ovary	ovary
27	chr2:111407800-111432200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:111410200-111429600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:111411000-111432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:111413800-111434000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:111414400-111427200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:111415600-111432200	Weak transcription	Spleen	Spleen
33	chr2:111415800-111426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:111415800-111432200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:111415800-111432200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:111415800-111432200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:111416200-111425800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:111416200-111432200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:111416400-111426600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:111416600-111432400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:111416800-111435200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:111417000-111425800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:111417000-111426200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:111417200-111432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:111419000-111432000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:111419400-111426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:111419400-111426000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:111419400-111426400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:111419400-111432200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:111419600-111425600	Weak transcription	Primary T cells from cord blood	blood

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