Variant report

Variant	rs10996328
Chromosome Location	chr10:53010188-53010189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr10:53009453-53010678	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr10:53009905-53010605	H1-neurons	neurons:	n/a	n/a
3	REST	chr10:53009390-53010931	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr10:53009990-53010454	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:53008618..53010640-chr10:53013381..53015189,2	K562	blood:
2	chr10:53008618..53010801-chr10:53013381..53015189,3	K562	blood:

Variant related genes	Relation type
ENSG00000231132	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10490973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10490974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10490975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10996310	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996313	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996314	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996321	1.00[JPT][hapmap]
rs10996322	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996327	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996331	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996357	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10996361	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10996376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10996377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10996389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10996390	1.00[EUR][1000 genomes]
rs10996392	1.00[EUR][1000 genomes]
rs10996397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10996438	1.00[EUR][1000 genomes]
rs10996449	1.00[EUR][1000 genomes]
rs10996452	1.00[EUR][1000 genomes]
rs10996455	1.00[EUR][1000 genomes]
rs10996458	0.96[EUR][1000 genomes]
rs12240684	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12247775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12251510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs12253122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254957	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12259761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12262817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12264019	1.00[EUR][1000 genomes]
rs16915897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849755	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61849756	1.00[EUR][1000 genomes]
rs61852060	0.96[EUR][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	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	esv2757383	chr10:52995974-53015583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	esv2759750	chr10:52995974-53015583	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53003600-53010400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:53004800-53010600	Weak transcription	Psoas Muscle	Psoas
3	chr10:53006000-53010200	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:53006200-53015800	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:53006400-53010400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:53006600-53010200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:53006600-53010400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:53006800-53017000	Weak transcription	Aorta	Aorta
9	chr10:53006800-53017600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:53007000-53010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:53007000-53010400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:53007000-53010600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:53007400-53016600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:53007800-53010400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:53007800-53012600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:53008000-53010400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:53008000-53012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:53008000-53012800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:53009400-53011800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:53009400-53012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:53009400-53012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:53009600-53010400	Enhancers	Stomach Smooth Muscle	stomach
23	chr10:53009600-53011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:53009600-53013600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:53009800-53011000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr10:53009800-53011200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr10:53009800-53011400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:53009800-53011800	Enhancers	Rectal Smooth Muscle	rectum
29	chr10:53010000-53010600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr10:53010000-53011200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:53010000-53011200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:53010000-53011800	Enhancers	HUVEC	blood vessel

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