Variant report

Variant	rs10305739
Chromosome Location	chr1:150789953-150789954
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150784245..150785810-chr1:150789685..150791349,2	MCF-7	breast:
2	chr1:150550706..150553008-chr1:150788888..150791389,2	K562	blood:
3	chr1:150532129..150533816-chr1:150788466..150790821,2	K562	blood:
4	chr1:150788842..150790398-chr1:150796829..150799047,2	K562	blood:

Variant related genes	Relation type
ENSG00000143384	Chromatin interaction
ENSG00000200175	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10305742	1.00[AFR][1000 genomes]
rs12119250	1.00[AFR][1000 genomes]
rs267731	1.00[AFR][1000 genomes]
rs41317523	1.00[AFR][1000 genomes]
rs525676	1.00[AFR][1000 genomes]
rs61751620	1.00[AFR][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	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
7	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
2	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:150782200-150791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150782200-150791400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:150782200-150795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:150782800-150792800	Strong transcription	Placenta	Placenta
13	chr1:150782800-150795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:150783000-150790600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:150783000-150792600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:150783000-150795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:150783000-150797000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:150783200-150790600	Strong transcription	Thymus	Thymus
19	chr1:150783200-150790800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:150783200-150790800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:150783200-150790800	Strong transcription	Spleen	Spleen
22	chr1:150783200-150791200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:150783200-150792000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:150783200-150794000	Strong transcription	HSMM	muscle
25	chr1:150783200-150795800	Strong transcription	NH-A	brain
26	chr1:150783200-150796000	Strong transcription	Adipose Nuclei	Adipose
27	chr1:150783200-150796000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:150783200-150797000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:150783200-150809800	Strong transcription	Fetal Thymus	thymus
30	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:150783400-150790600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:150783400-150790800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:150783400-150793400	Strong transcription	Osteobl	bone
35	chr1:150783600-150790800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:150783800-150790600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:150784000-150802000	Strong transcription	Fetal Lung	lung
38	chr1:150784200-150790600	Strong transcription	Esophagus	oesophagus
39	chr1:150784200-150790800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:150784200-150791200	Strong transcription	Fetal Stomach	stomach
41	chr1:150784200-150791400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:150784200-150795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:150784200-150796000	Strong transcription	Fetal Intestine Large	intestine
44	chr1:150784400-150790600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:150784600-150791200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:150784600-150791200	Strong transcription	Fetal Intestine Small	intestine
47	chr1:150785200-150791200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:150785400-150791200	Strong transcription	Colonic Mucosa	Colon
49	chr1:150785800-150792600	Strong transcription	Liver	Liver
50	chr1:150785800-150793000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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