Variant report

Variant	rs10305751
Chromosome Location	chr1:150783458-150783459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr1:150783262-150784013	MCF-7	breast:	n/a	n/a
2	KAP1	chr1:150783266-150784176	U2OS	brain:	n/a	n/a
3	KAP1	chr1:150783169-150784032	HEK293	kidney:	n/a	n/a
4	GATA3	chr1:150783381-150783830	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr1:150783336-150783876	HEK293	kidney:	n/a	n/a
6	GATA3	chr1:150783174-150784476	MCF-7	breast:	n/a	n/a
7	SRF	chr1:150783323-150783923	MCF-7	breast:	n/a	n/a
8	GATA3	chr1:150783186-150784211	MCF-7	breast:	n/a	n/a
9	HDAC2	chr1:150783299-150783928	MCF-7	breast:	n/a	n/a
10	GATA2	chr1:150783413-150783784	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150533359..150535631-chr1:150783020..150785029,2	MCF-7	breast:
2	chr1:150593699..150596030-chr1:150782553..150785002,2	MCF-7	breast:
3	chr1:150539334..150542207-chr1:150782861..150785483,3	K562	blood:
4	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
5	chr1:150720934..150724836-chr1:150780473..150783915,3	K562	blood:
6	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
7	chr1:150539334..150542207-chr1:150782861..150785483,4	K562	blood:

No data

Variant related genes	Relation type
CTSK	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000163131	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000264584	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10305657	1.00[EUR][1000 genomes]
rs10305685	0.97[MKK][hapmap]
rs10305693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305740	1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119250	1.00[ASN][1000 genomes]
rs12139770	1.00[ASN][1000 genomes]
rs16827772	0.95[MKK][hapmap]
rs34053871	1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs41266595	1.00[ASN][1000 genomes]
rs41266603	1.00[ASN][1000 genomes]
rs41266901	1.00[ASN][1000 genomes]
rs41266927	1.00[ASN][1000 genomes]
rs41272021	1.00[ASN][1000 genomes]
rs41272023	1.00[ASN][1000 genomes]
rs41317523	1.00[ASN][1000 genomes]
rs41496050	0.80[MKK][hapmap]
rs55772167	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954760	0.81[EUR][1000 genomes]
rs6660291	1.00[ASN][1000 genomes]
rs6672493	1.00[ASN][1000 genomes]
rs72700822	1.00[ASN][1000 genomes]
rs74127015	1.00[ASN][1000 genomes]
rs7550234	1.00[ASN][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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
2	chr1:150767600-150783600	Weak transcription	Psoas Muscle	Psoas
3	chr1:150768200-150784000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:150769400-150785200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:150770600-150783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:150771200-150784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:150771200-150785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:150771600-150785200	Weak transcription	Pancreas	Pancrea
9	chr1:150771800-150783600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:150771800-150783600	Weak transcription	A549	lung
11	chr1:150772400-150783600	Weak transcription	Right Ventricle	heart
12	chr1:150772600-150785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:150775800-150784600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:150777800-150784600	Weak transcription	Hela-S3	cervix
15	chr1:150779200-150784000	Weak transcription	Gastric	stomach
16	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:150779800-150783800	Weak transcription	HepG2	liver
18	chr1:150780400-150783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:150780400-150784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:150780400-150784400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:150780400-150784600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:150780600-150788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:150780800-150784600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:150780800-150785400	Weak transcription	Colonic Mucosa	Colon
25	chr1:150780800-150788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:150781000-150783600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:150781000-150783600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:150781000-150783600	Weak transcription	Fetal Kidney	kidney
29	chr1:150781000-150783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:150781000-150783800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:150781000-150784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:150781000-150784200	Weak transcription	Esophagus	oesophagus
33	chr1:150781000-150784600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:150781000-150785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:150781000-150785200	Weak transcription	Fetal Brain Male	brain
36	chr1:150781000-150785800	Weak transcription	Right Atrium	heart
37	chr1:150781200-150784000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:150781200-150785200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:150781400-150783800	Weak transcription	Aorta	Aorta
40	chr1:150781400-150788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:150781600-150783600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:150781600-150784600	Weak transcription	Ovary	ovary
43	chr1:150781600-150787000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:150781800-150783800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:150782000-150783800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:150782000-150784200	Weak transcription	Fetal Stomach	stomach
47	chr1:150782200-150785200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:150782200-150785400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:150782200-150787600	Strong transcription	Left Ventricle	heart
50	chr1:150782200-150791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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