Variant report

Variant	rs10241374
Chromosome Location	chr7:104694973-104694974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104684090..104689143-chr7:104690596..104695842,7	K562	blood:
2	chr7:104693711..104695531-chr7:104698360..104700318,2	MCF-7	breast:
3	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
4	chr7:104652104..104656031-chr7:104693551..104701213,11	MCF-7	breast:
5	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1019040	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10224526	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10231782	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10231975	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10245589	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10245796	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs10248954	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10249746	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10249965	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10253962	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10260346	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10261573	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264273	0.90[EUR][1000 genomes]
rs10268866	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10274607	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs10279486	0.94[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10279602	0.93[EUR][1000 genomes]
rs10280470	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs10280752	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10808139	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10953464	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs10953466	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953467	0.86[EUR][1000 genomes]
rs1143	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11520996	0.81[EUR][1000 genomes]
rs11971732	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11973516	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11976329	0.90[EUR][1000 genomes]
rs11981399	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs12531424	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532062	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs12532456	0.87[EUR][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540007	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs12667625	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12671368	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12705297	0.94[EUR][1000 genomes]
rs12705299	0.89[EUR][1000 genomes]
rs13230660	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13237370	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1859786	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1978201	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2011258	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2058711	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2214928	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2216107	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2237602	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs2237604	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237605	0.90[EUR][1000 genomes]
rs2237606	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2237607	0.85[EUR][1000 genomes]
rs2237609	0.81[EUR][1000 genomes]
rs2237610	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2237615	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2237616	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2237617	0.87[CHB][hapmap]
rs2237618	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2237619	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2237620	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2240453	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2240454	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2240455	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240457	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2240465	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2283016	0.81[EUR][1000 genomes]
rs2285532	0.83[EUR][1000 genomes]
rs2299297	0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs2299299	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[EUR][1000 genomes]
rs2299313	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2299320	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2299326	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2385542	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs28434158	0.93[EUR][1000 genomes]
rs28489493	0.87[EUR][1000 genomes]
rs2891761	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs3213676	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs3213741	0.83[EUR][1000 genomes]
rs34202980	0.93[EUR][1000 genomes]
rs34558707	0.81[AMR][1000 genomes]
rs35780942	0.90[EUR][1000 genomes]
rs3735377	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3779208	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3801283	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3815256	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4730065	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4730068	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730069	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs6466045	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6466046	0.86[EUR][1000 genomes]
rs67739707	0.86[EUR][1000 genomes]
rs6944847	0.82[EUR][1000 genomes]
rs6952534	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6971241	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6972229	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6973052	0.83[ASN][1000 genomes]
rs71562633	0.85[EUR][1000 genomes]
rs717352	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs725506	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs740297	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs740298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs740300	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7780887	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs7785197	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787558	0.81[ASN][1000 genomes]
rs7800233	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7805792	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7808168	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7810119	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.90[EUR][1000 genomes]
rs7811349	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs875567	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs875568	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs916704	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs960437	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]
rs9641340	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs9641341	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs999895	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[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:124 , 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	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:104678000-104812200	Strong transcription	Dnd41	blood
5	chr7:104679600-104695800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
7	chr7:104680800-104697400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:104681200-104697000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:104681200-104698400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:104681200-104698600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:104681200-104699200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:104681400-104695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:104681800-104695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:104681800-104696000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:104683200-104696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:104685200-104697600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:104685600-104695600	Weak transcription	Right Ventricle	heart
23	chr7:104685600-104703800	Weak transcription	Fetal Brain Male	brain
24	chr7:104685600-104704400	Weak transcription	Aorta	Aorta
25	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
26	chr7:104685600-104709000	Weak transcription	Lung	lung
27	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:104687200-104695400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:104687400-104695800	Strong transcription	Fetal Stomach	stomach
31	chr7:104687600-104696400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:104687600-104700400	Weak transcription	NHEK	skin
33	chr7:104687800-104695400	Strong transcription	Fetal Intestine Small	intestine
34	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:104688000-104696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:104688000-104703600	Weak transcription	A549	lung
37	chr7:104688200-104696200	Strong transcription	Osteobl	bone
38	chr7:104688200-104707600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:104688400-104696200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:104688800-104696000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:104688800-104701200	Weak transcription	Ovary	ovary
42	chr7:104688800-104701200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:104688800-104707400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:104689000-104695400	Weak transcription	HUVEC	blood vessel
45	chr7:104689000-104696000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:104689400-104695000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:104689400-104695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:104689400-104696400	Weak transcription	Brain Substantia Nigra	brain
49	chr7:104689400-104696800	Weak transcription	NHDF-Ad	bronchial
50	chr7:104689400-104708200	Weak transcription	NHLF	lung

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