Variant report

Variant	rs10231975
Chromosome Location	chr7:104637909-104637910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104584259..104587185-chr7:104637074..104639032,2	K562	blood:
2	chr7:104637895..104640816-chr7:105263916..105266780,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Variant related genes	Relation type
ENSG00000146776	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1019040	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10224526	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10231782	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10241374	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10245589	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245796	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10249746	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249965	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10253962	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10260346	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10261573	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10264273	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10268866	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10274607	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279486	0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279602	0.88[EUR][1000 genomes]
rs10280009	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280470	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10280752	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808139	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10953464	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953466	0.82[EUR][1000 genomes]
rs10953467	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1143	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11971732	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11973516	0.93[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs11976329	0.88[EUR][1000 genomes]
rs11981399	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12171585	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12531424	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12532062	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532456	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12540007	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12667625	0.83[EUR][1000 genomes]
rs12671368	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12705297	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12705299	0.86[EUR][1000 genomes]
rs13230660	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237370	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1859786	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1967301	0.80[AMR][1000 genomes]
rs2011258	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2058711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214928	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2216107	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237602	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2237604	0.84[EUR][1000 genomes]
rs2237605	0.88[EUR][1000 genomes]
rs2237606	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2237610	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2240453	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240454	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2240455	0.93[CEU][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2240457	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2240465	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2285532	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299297	0.89[JPT][hapmap]
rs2299299	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs28434158	0.83[EUR][1000 genomes]
rs28489493	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2891761	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213676	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3213741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202980	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34558707	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35418021	0.80[AMR][1000 genomes]
rs35780942	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3735377	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3815256	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs4730065	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730068	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730069	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs6466043	0.85[AMR][1000 genomes]
rs6466045	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs67739707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6952534	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6971241	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6972229	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71562633	0.86[EUR][1000 genomes]
rs740297	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740298	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740300	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7780887	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7785197	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7800233	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7805792	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7808168	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7810119	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7811349	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs875567	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs875568	0.93[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs916704	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960437	0.93[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9641340	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641341	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs999895	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	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
5	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv437995	chr7:104632980-104641241	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1022083	chr7:104634376-104644391	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
5	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:104626400-104639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:104627200-104638400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:104629800-104640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:104629800-104641200	Weak transcription	Colonic Mucosa	Colon
13	chr7:104630200-104641200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:104630800-104639000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:104630800-104640200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:104630800-104641600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:104630800-104643600	Weak transcription	Fetal Kidney	kidney
18	chr7:104631600-104639000	Strong transcription	K562	blood
19	chr7:104631600-104643600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:104632000-104641200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:104632200-104640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:104632200-104641200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:104632200-104641200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:104632200-104641200	Weak transcription	Esophagus	oesophagus
25	chr7:104632200-104641200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:104632200-104641200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:104632200-104641200	Weak transcription	Gastric	stomach
28	chr7:104632200-104641200	Weak transcription	Pancreas	Pancrea
29	chr7:104632200-104641200	Weak transcription	Spleen	Spleen
30	chr7:104632800-104641200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:104632800-104641200	Weak transcription	Fetal Stomach	stomach
32	chr7:104632800-104641400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:104633000-104642600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:104633200-104638200	Strong transcription	Hela-S3	cervix
35	chr7:104633200-104643600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:104633400-104638000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:104633400-104639000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:104633400-104641400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:104634000-104647200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:104634200-104640200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:104634400-104641200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:104634400-104642800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:104634400-104642800	Weak transcription	HSMMtube	muscle
45	chr7:104634600-104639400	Weak transcription	NHEK	skin
46	chr7:104634600-104639600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:104634600-104640200	Strong transcription	HSMM	muscle
48	chr7:104634600-104640800	Weak transcription	Right Ventricle	heart
49	chr7:104634800-104641800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:104635000-104640600	Weak transcription	NHLF	lung

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