Variant report

Variant	rs1144
Chromosome Location	chr7:104756355-104756356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104716447..104718430-chr7:104756348..104758155,2	K562	blood:
2	chr7:104744452..104748663-chr7:104752143..104756800,5	K562	blood:
3	chr7:104748748..104753813-chr7:104754456..104758355,8	K562	blood:

Variant related genes	Relation type
ENSG00000272918	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10238507	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10241415	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10266871	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs10271204	0.81[ASN][1000 genomes]
rs10277120	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10281422	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10487150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953470	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1142	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.94[EUR][1000 genomes]
rs11760317	0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12668040	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs13223290	0.82[ASN][1000 genomes]
rs13235033	0.94[JPT][hapmap]
rs13238191	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs17721873	0.93[JPT][hapmap]
rs2003506	0.91[EUR][1000 genomes]
rs2057883	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2057884	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2192932	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs2237612	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2237613	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2237617	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2240463	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299308	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2299319	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2470942	0.94[JPT][hapmap]
rs2470943	0.94[JPT][hapmap]
rs2470944	0.94[JPT][hapmap]
rs2470945	0.94[JPT][hapmap]
rs2470948	0.93[JPT][hapmap]
rs3779210	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3801278	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3801281	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3801282	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs3801285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3823752	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs41562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs41563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4730072	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4730073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466053	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6466056	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6466057	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6943183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6948885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]
rs6950620	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962856	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6965384	1.00[JPT][hapmap]
rs6967587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7776707	1.00[JPT][hapmap]
rs7797912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7806591	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs917114	0.94[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
9	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
13	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:104737000-104757800	Strong transcription	Adipose Nuclei	Adipose
23	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
25	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:104739800-104757800	Strong transcription	HSMM	muscle
28	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
29	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
31	chr7:104740400-104758200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
33	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104740800-104756800	Strong transcription	K562	blood
35	chr7:104740800-104758400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:104740800-104760200	Strong transcription	HMEC	breast
37	chr7:104741400-104757800	Strong transcription	HUVEC	blood vessel
38	chr7:104741600-104758600	Strong transcription	Placenta	Placenta
39	chr7:104741800-104756400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:104742400-104760200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:104742800-104758400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:104743200-104756400	Strong transcription	A549	lung
44	chr7:104743600-104757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:104743800-104756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:104743800-104758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:104743800-104758600	Strong transcription	GM12878-XiMat	blood
48	chr7:104745200-104758600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr7:104746000-104756400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:104750200-104777000	Weak transcription	Right Atrium	heart

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