Variant report

Variant	rs7595401
Chromosome Location	chr2:74264208-74264209
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74233321..74236267-chr2:74261492..74264516,4	K562	blood:
2	chr2:74263173..74265651-chr2:74272992..74275826,3	K562	blood:
3	chr2:74260106..74261716-chr2:74262386..74265335,3	K562	blood:
4	chr2:74210926..74215380-chr2:74261729..74265368,4	K562	blood:
5	chr2:74263494..74265315-chr2:74423990..74425965,2	K562	blood:
6	chr2:74263154..74265649-chr2:74267103..74270206,3	MCF-7	breast:
7	chr2:74263750..74267356-chr2:74281436..74283825,3	K562	blood:
8	chr2:74262372..74265122-chr2:74265413..74267143,2	K562	blood:
9	chr2:74263419..74265541-chr2:74374081..74377142,3	K562	blood:
10	chr2:74260003..74261827-chr2:74262096..74265346,4	K562	blood:
11	chr2:74263852..74266331-chr2:74266668..74270220,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10164943	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10168410	0.83[ASN][1000 genomes]
rs10179742	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10182376	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10186781	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10191539	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10192993	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10198884	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200470	0.89[ASN][1000 genomes]
rs11126424	0.86[ASN][1000 genomes]
rs11884748	0.84[ASN][1000 genomes]
rs11885172	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11886928	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12328927	0.90[ASN][1000 genomes]
rs12713804	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs12713806	0.90[ASN][1000 genomes]
rs12713808	0.84[ASN][1000 genomes]
rs12713810	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs13006301	0.84[ASN][1000 genomes]
rs13006407	0.90[ASN][1000 genomes]
rs13014576	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13387010	0.81[ASN][1000 genomes]
rs13387412	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13396777	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13413697	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13426799	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28421442	1.00[EUR][1000 genomes]
rs28450901	0.86[ASN][1000 genomes]
rs28460865	1.00[ASN][1000 genomes]
rs3902790	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4073048	0.83[ASN][1000 genomes]
rs4241258	0.84[CHB][hapmap]
rs4241260	0.84[ASN][1000 genomes]
rs4331526	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4338985	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4364046	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4371381	0.84[ASN][1000 genomes]
rs4416242	0.90[ASN][1000 genomes]
rs4574138	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4578887	0.83[ASN][1000 genomes]
rs4621184	0.84[ASN][1000 genomes]
rs4852326	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4853003	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4853005	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4853006	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4853007	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4853009	0.83[ASN][1000 genomes]
rs6546886	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6546887	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6546889	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706327	0.88[ASN][1000 genomes]
rs6741544	0.83[ASN][1000 genomes]
rs6745236	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6745576	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6745792	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6755711	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6756474	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7560668	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7568898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7584777	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7587991	0.83[ASN][1000 genomes]
rs7589915	0.90[ASN][1000 genomes]
rs7592749	0.83[ASN][1000 genomes]
rs7601526	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7606491	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9309478	0.84[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74256000-74269600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:74256200-74266400	Weak transcription	HepG2	liver
5	chr2:74259400-74269600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:74259800-74264600	Weak transcription	Spleen	Spleen
7	chr2:74259800-74265400	Weak transcription	Pancreas	Pancrea
8	chr2:74259800-74269200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:74260000-74264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:74260000-74264400	Weak transcription	HMEC	breast
11	chr2:74260000-74264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:74260000-74264600	Weak transcription	Psoas Muscle	Psoas
13	chr2:74260000-74264600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:74260000-74266200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:74260000-74267400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:74260000-74269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:74260000-74269400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:74260000-74269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:74260000-74269800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:74260000-74269800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:74260000-74273200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:74260200-74264400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:74260200-74264400	Weak transcription	NHEK	skin
24	chr2:74260200-74265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:74260200-74267000	Weak transcription	Fetal Heart	heart
26	chr2:74260200-74269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:74260200-74270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:74260200-74271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:74260200-74272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:74260200-74273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:74260400-74264400	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:74260400-74267000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:74260400-74270200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:74260400-74271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:74260800-74264400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:74260800-74270000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:74260800-74278400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:74262600-74264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:74262600-74267000	Enhancers	Thymus	Thymus
40	chr2:74262800-74267000	Enhancers	Primary B cells from peripheral blood	blood
41	chr2:74262800-74269400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:74263000-74264400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:74263000-74264600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:74263000-74264600	Enhancers	Brain Anterior Caudate	brain
45	chr2:74263000-74265000	Enhancers	Fetal Lung	lung
46	chr2:74263000-74265000	Enhancers	Dnd41	blood
47	chr2:74263000-74265600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:74263000-74265600	Enhancers	Fetal Intestine Small	intestine
49	chr2:74263000-74265800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:74263000-74269000	Enhancers	Fetal Thymus	thymus

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