Variant report

Variant	rs10305754
Chromosome Location	chr1:150783139-150783140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000163131	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000264508	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10305740	1.00[LWK][hapmap]
rs10305742	1.00[LWK][hapmap]
rs11807967	1.00[LWK][hapmap]
rs12032880	1.00[LWK][hapmap]
rs12077457	1.00[LWK][hapmap]
rs2229175	1.00[LWK][hapmap]

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	chr1:150761200-150783200	Weak transcription	GM12878-XiMat	blood
2	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
3	chr1:150767600-150783600	Weak transcription	Psoas Muscle	Psoas
4	chr1:150768200-150784000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:150769400-150785200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:150770400-150783400	Weak transcription	Stomach Mucosa	stomach
7	chr1:150770600-150783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:150771200-150784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:150771200-150785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:150771600-150785200	Weak transcription	Pancreas	Pancrea
11	chr1:150771800-150783600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:150771800-150783600	Weak transcription	A549	lung
13	chr1:150772200-150783200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:150772200-150783200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:150772200-150783200	Weak transcription	Spleen	Spleen
16	chr1:150772400-150783600	Weak transcription	Right Ventricle	heart
17	chr1:150772600-150785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:150773000-150783400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:150775800-150784600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:150776800-150783400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:150777800-150784600	Weak transcription	Hela-S3	cervix
22	chr1:150779200-150784000	Weak transcription	Gastric	stomach
23	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:150779800-150783800	Weak transcription	HepG2	liver
25	chr1:150780200-150783200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:150780400-150783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:150780400-150783200	Weak transcription	Dnd41	blood
28	chr1:150780400-150783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:150780400-150784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:150780400-150784400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:150780400-150784600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:150780600-150783200	Weak transcription	Fetal Thymus	thymus
33	chr1:150780600-150788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:150780800-150783200	Weak transcription	Thymus	Thymus
35	chr1:150780800-150784600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:150780800-150785400	Weak transcription	Colonic Mucosa	Colon
37	chr1:150780800-150788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:150781000-150783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:150781000-150783200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:150781000-150783200	Weak transcription	Fetal Brain Female	brain
41	chr1:150781000-150783200	Weak transcription	Fetal Intestine Large	intestine
42	chr1:150781000-150783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:150781000-150783400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:150781000-150783400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:150781000-150783400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:150781000-150783600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:150781000-150783600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:150781000-150783600	Weak transcription	Fetal Kidney	kidney
49	chr1:150781000-150783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:150781000-150783800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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