Variant report

Variant	rs11971732
Chromosome Location	chr7:104627874-104627875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104626171..104628640-chr7:104635063..104636890,2	MCF-7	breast:
2	chr7:104626935..104628552-chr7:105161341..105163414,2	K562	blood:
3	chr7:104627274..104629727-chr7:104630896..104634327,3	MCF-7	breast:
4	chr7:104622776..104625398-chr7:104626077..104628432,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589

Variant related genes	Relation type
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1013016	0.81[AMR][1000 genomes]
rs1019040	0.81[AMR][1000 genomes]
rs10224526	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10231782	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10231975	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10241374	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10242713	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10244764	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10245589	0.81[AMR][1000 genomes]
rs10245676	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10245796	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10249746	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10249965	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10260346	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10261472	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10261573	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10264273	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10268866	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10274607	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276583	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10279486	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10279602	0.86[EUR][1000 genomes]
rs10280009	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10280752	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10808139	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10808140	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10953464	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10953466	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11973516	0.86[AMR][1000 genomes]
rs11981399	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12531424	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12532062	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12534140	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12667625	0.81[EUR][1000 genomes]
rs12671368	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12705297	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13230660	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2011258	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2058711	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2216107	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2237602	0.81[AMR][1000 genomes]
rs2237604	0.82[EUR][1000 genomes]
rs2240453	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2240454	0.87[AMR][1000 genomes]
rs2240455	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2285532	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28434158	0.81[EUR][1000 genomes]
rs2891761	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3173872	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3213741	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34202980	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34558707	0.93[AMR][1000 genomes]
rs35780942	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3735377	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4730065	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730067	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4730068	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4730069	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67739707	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6952534	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6972229	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71562633	0.84[EUR][1000 genomes]
rs740297	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs740298	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs740300	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7785197	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7800233	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7805792	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7811349	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs875567	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs875568	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs916704	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs960437	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9641340	0.87[AMR][1000 genomes]
rs9641341	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs999895	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:104625000-104629400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:104625000-104629400	Weak transcription	Esophagus	oesophagus
4	chr7:104625000-104629400	Weak transcription	Lung	lung
5	chr7:104625000-104629400	Weak transcription	Ovary	ovary
6	chr7:104625000-104629400	Weak transcription	Small Intestine	intestine
7	chr7:104625000-104631400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:104625000-104631400	Weak transcription	Spleen	Spleen
9	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
10	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:104625200-104628000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:104625200-104628400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:104625200-104629400	Weak transcription	Fetal Stomach	stomach
15	chr7:104625200-104630600	Enhancers	Osteobl	bone
16	chr7:104625200-104631200	Enhancers	Liver	Liver
17	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:104625400-104628000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:104625400-104628000	Enhancers	Colonic Mucosa	Colon
20	chr7:104625400-104629400	Weak transcription	Right Ventricle	heart
21	chr7:104625400-104629400	Weak transcription	Thymus	Thymus
22	chr7:104625400-104629400	Enhancers	NHLF	lung
23	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
25	chr7:104625600-104628200	Enhancers	NHDF-Ad	bronchial
26	chr7:104625600-104628400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:104625600-104628800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:104625600-104629000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:104625600-104629400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:104625600-104629400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:104625600-104629400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:104625600-104631400	Weak transcription	Gastric	stomach
33	chr7:104625600-104636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:104625800-104628200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:104625800-104628200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:104625800-104628400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:104625800-104628400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:104625800-104629400	Weak transcription	NH-A	brain
39	chr7:104625800-104629600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:104625800-104630200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:104625800-104630400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:104626000-104629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:104626000-104629400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:104626000-104630400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:104626200-104628200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:104626200-104628200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:104626200-104629400	Weak transcription	HMEC	breast
49	chr7:104626200-104629800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:104626200-104630200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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