Variant report

Variant	rs10268984
Chromosome Location	chr7:98963340-98963341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98962846..98963843-chr7:98983958..98985201,4	K562	blood:
2	chr7:98958611..98961289-chr7:98962997..98964905,2	MCF-7	breast:
3	chr7:98963016..98963837-chr7:98984520..98985154,2	MCF-7	breast:
4	chr7:98963291..98965868-chr7:99006245..99008674,2	MCF-7	breast:
5	chr7:98963290..98965045-chr7:99004203..99006540,2	K562	blood:
6	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
7	chr7:98962190..98963996-chr7:98991178..98993246,2	MCF-7	breast:
8	chr7:98962837..98963797-chr7:98984507..98985215,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106244	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10085772	0.82[AMR][1000 genomes]
rs10215765	1.00[ASN][1000 genomes]
rs10215854	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10226310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	1.00[ASN][1000 genomes]
rs10235235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10236240	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10261635	0.85[AMR][1000 genomes]
rs10264505	1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs10275381	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277447	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808111	1.00[CHB][hapmap]
rs10808112	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10953288	1.00[CHB][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953289	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11555142	1.00[ASN][1000 genomes]
rs11761528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11766423	1.00[ASN][1000 genomes]
rs11971640	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972017	1.00[CHB][hapmap]
rs11973173	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11973801	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11974593	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974885	1.00[CHB][hapmap]
rs11977673	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs11978345	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11978582	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11980143	1.00[ASN][1000 genomes]
rs11980995	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	1.00[ASN][1000 genomes]
rs12531852	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533251	1.00[ASN][1000 genomes]
rs12535424	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13226604	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13227522	1.00[ASN][1000 genomes]
rs13243267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17161687	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17161761	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2003498	1.00[ASN][1000 genomes]
rs2301889	0.88[YRI][hapmap]
rs28419687	1.00[ASN][1000 genomes]
rs28602855	1.00[ASN][1000 genomes]
rs28627543	1.00[ASN][1000 genomes]
rs34111611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34257469	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35183025	1.00[ASN][1000 genomes]
rs35296070	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	1.00[ASN][1000 genomes]
rs45618033	1.00[ASN][1000 genomes]
rs4765	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761861	1.00[ASN][1000 genomes]
rs57786744	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	1.00[ASN][1000 genomes]
rs60127638	1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs66674233	1.00[ASN][1000 genomes]
rs67279166	1.00[ASN][1000 genomes]
rs67309224	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67860332	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6947941	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6947974	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6955490	0.80[TSI][hapmap]
rs6955891	1.00[ASN][1000 genomes]
rs6960805	1.00[CHB][hapmap]
rs6960810	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961579	1.00[CHB][hapmap]
rs704798	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157587	1.00[ASN][1000 genomes]
rs73157588	1.00[ASN][1000 genomes]
rs73157589	1.00[ASN][1000 genomes]
rs73157590	1.00[ASN][1000 genomes]
rs73157596	1.00[ASN][1000 genomes]
rs73157600	1.00[ASN][1000 genomes]
rs73157601	1.00[ASN][1000 genomes]
rs73157602	1.00[ASN][1000 genomes]
rs73159506	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7778859	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868391	1.00[ASN][1000 genomes]
rs9632722	1.00[ASN][1000 genomes]
rs9656060	1.00[ASN][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10268984	ARPC1B	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98925200-98965200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:98927200-98966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:98928400-98967200	Strong transcription	Fetal Thymus	thymus
5	chr7:98928600-98965200	Strong transcription	Dnd41	blood
6	chr7:98929000-98965600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:98929400-98965200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:98929600-98965400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:98929800-98965000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr7:98930000-98968200	Strong transcription	Fetal Intestine Small	intestine
11	chr7:98930200-98968400	Strong transcription	Fetal Stomach	stomach
12	chr7:98930600-98965200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:98930600-98965200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:98930600-98965200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:98930800-98965200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:98930800-98965200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:98930800-98965400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:98930800-98966800	Strong transcription	Adipose Nuclei	Adipose
19	chr7:98930800-98967000	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:98930800-98967600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:98931000-98965000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:98932600-98966400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:98934400-98965200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:98939600-98965400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:98939800-98965200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:98939800-98965200	Strong transcription	Fetal Intestine Large	intestine
28	chr7:98940200-98965000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:98940600-98965000	Strong transcription	Primary T cells from cord blood	blood
30	chr7:98941600-98965200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:98944200-98967200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:98944400-98965200	Strong transcription	Thymus	Thymus
33	chr7:98944400-98965400	Strong transcription	Spleen	Spleen
34	chr7:98944600-98965200	Strong transcription	Lung	lung
35	chr7:98946400-98967600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:98951000-98965000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr7:98951000-98967000	Strong transcription	Left Ventricle	heart
38	chr7:98951200-98965200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:98951200-98965200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:98951200-98965200	Strong transcription	Right Ventricle	heart
41	chr7:98951200-98965200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:98951200-98965200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:98951400-98963400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:98951400-98965200	Strong transcription	Fetal Brain Female	brain
45	chr7:98953000-98964000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:98953000-98965000	Strong transcription	Fetal Lung	lung
47	chr7:98953000-98965000	Strong transcription	Pancreas	Pancrea
48	chr7:98953400-98965000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr7:98953400-98965000	Strong transcription	HMEC	breast
50	chr7:98953400-98965000	Strong transcription	NHEK	skin

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