Variant report

Variant	rs7096921
Chromosome Location	chr10:6370545-6370546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6243132..6244692-chr10:6370296..6371830,2	MCF-7	breast:
2	chr10:6369334..6371364-chr10:6379750..6382639,2	MCF-7	breast:
3	chr10:6364682..6367118-chr10:6369730..6371380,2	K562	blood:
4	chr10:6339849..6343647-chr10:6369137..6372590,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL137145.1-1	chr10:6369894-6371772	NR_040079
2	lnc-AL137145.1-1	chr10:6369894-6371772	ENSG00000215244.2

Variant related genes	Relation type
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10795990	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10795992	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10795998	0.80[ASN][1000 genomes]
rs10906232	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2021950	0.88[CHB][hapmap];0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs2387396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7087657	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7087682	0.96[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs764189	0.82[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7901352	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7917326	0.90[CHD][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7096921	ITIH2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6356000-6388200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:6356200-6377600	Weak transcription	Ovary	ovary
3	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
4	chr10:6358600-6373600	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:6361400-6375200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:6361600-6374600	Weak transcription	Dnd41	blood
7	chr10:6362800-6382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:6363000-6371200	Weak transcription	Lung	lung
9	chr10:6368200-6371400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:6368600-6370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:6369000-6371200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:6369000-6371200	Enhancers	Brain Substantia Nigra	brain
13	chr10:6369000-6371800	Enhancers	Brain Anterior Caudate	brain
14	chr10:6369200-6372400	Enhancers	Brain Hippocampus Middle	brain
15	chr10:6369400-6371600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:6369400-6372000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:6369600-6372400	Enhancers	Primary B cells from peripheral blood	blood
18	chr10:6369800-6370600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:6369800-6370600	Enhancers	Primary B cells from cord blood	blood
20	chr10:6369800-6370600	Enhancers	Aorta	Aorta
21	chr10:6370000-6370800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr10:6370000-6371200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:6370000-6371400	Enhancers	GM12878-XiMat	blood
24	chr10:6370000-6374200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:6370200-6371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:6370200-6371200	Weak transcription	Brain Angular Gyrus	brain
27	chr10:6370200-6371600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:6370200-6371800	Enhancers	Fetal Muscle Leg	muscle
29	chr10:6370400-6371600	Enhancers	HSMMtube	muscle
30	chr10:6370400-6373400	Weak transcription	Adipose Nuclei	Adipose

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