Variant report

Variant	rs960437
Chromosome Location	chr7:104689742-104689743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104664494..104666529-chr7:104689516..104692516,3	K562	blood:
2	chr7:104678530..104680181-chr7:104689121..104691963,2	K562	blood:
3	chr7:104679395..104681134-chr7:104687205..104689938,2	MCF-7	breast:
4	chr7:104669078..104671448-chr7:104687448..104690363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1013016	0.93[CEU][hapmap];0.89[JPT][hapmap]
rs1019040	0.93[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10224526	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10231782	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10231975	0.93[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10241374	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10242713	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10244764	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10245589	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10245676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10245796	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10248954	0.85[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10249746	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253962	0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs10260346	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10261472	0.84[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10261573	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10264273	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10268866	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10269027	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10274607	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10276583	0.93[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10279486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10279602	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10280009	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10280470	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10280752	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808139	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes]
rs10808140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953464	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10953466	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953467	0.86[EUR][1000 genomes]
rs1143	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs11971732	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11973516	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11976329	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11981399	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12531424	0.93[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532062	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12532456	0.87[EUR][1000 genomes]
rs12534140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540007	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12667625	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12671368	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12705297	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12705299	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13230660	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13237370	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs1859786	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1978201	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2011258	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2058711	0.92[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2214928	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2216107	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2237602	0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237605	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237606	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2237607	0.82[EUR][1000 genomes]
rs2237609	0.81[ASN][1000 genomes]
rs2237610	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2237615	0.85[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2237616	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2237618	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2237619	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2237620	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2240453	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2240454	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2240455	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240457	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2240465	0.86[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs2285532	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2299299	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2299313	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2299320	0.93[CEU][hapmap]
rs2385542	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs28434158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28489493	0.87[EUR][1000 genomes]
rs2891761	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3173872	0.93[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3213676	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3213741	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34202980	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34558707	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35780942	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3735377	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3779208	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs3801283	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs3815256	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4730065	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730067	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730068	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730069	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4730071	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4730072	0.80[CHB][hapmap]
rs6466045	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6466046	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67739707	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6944847	0.83[AMR][1000 genomes]
rs6952534	0.93[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6961668	0.87[AFR][1000 genomes]
rs6971241	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6972229	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6973052	0.85[ASN][1000 genomes]
rs71562633	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs717352	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs725506	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs740297	0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs740298	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs740300	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7780887	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs7785197	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7787558	0.84[ASN][1000 genomes]
rs7800233	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7805792	0.83[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7808168	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs7810119	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7811349	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs875567	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916704	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9641340	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9641341	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999895	0.93[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:104675000-104694200	Weak transcription	Spleen	Spleen
4	chr7:104675000-104694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:104678000-104812200	Strong transcription	Dnd41	blood
7	chr7:104679600-104695800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
9	chr7:104680800-104697400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:104681000-104691000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:104681200-104689800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:104681200-104689800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:104681200-104690200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr7:104681200-104691400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:104681200-104692000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:104681200-104692800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:104681200-104697000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:104681200-104698400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:104681200-104698600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:104681200-104699200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:104681400-104695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:104681800-104695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:104681800-104696000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr7:104682200-104694200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:104683200-104696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:104684200-104690000	Strong transcription	Fetal Intestine Large	intestine
31	chr7:104684200-104690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:104684600-104691000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:104684800-104690600	Strong transcription	Primary B cells from cord blood	blood
34	chr7:104685000-104689800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:104685200-104697600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:104685400-104690000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:104685400-104691600	Strong transcription	Primary T cells from cord blood	blood
38	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:104685600-104691000	Strong transcription	K562	blood
40	chr7:104685600-104695600	Weak transcription	Right Ventricle	heart
41	chr7:104685600-104703800	Weak transcription	Fetal Brain Male	brain
42	chr7:104685600-104704400	Weak transcription	Aorta	Aorta
43	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
44	chr7:104685600-104709000	Weak transcription	Lung	lung
45	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:104687200-104690000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:104687200-104690400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:104687200-104691400	Strong transcription	Fetal Muscle Leg	muscle
50	chr7:104687200-104695400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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