Variant report

Variant	rs16872446
Chromosome Location	chr7:107871182-107871183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107869566..107872077-chr7:107881722..107884339,2	K562	blood:
2	chr7:107869566..107871803-chr7:107881620..107884339,2	K562	blood:
3	chr7:107866861..107869215-chr7:107871119..107873016,2	K562	blood:
4	chr7:107867953..107871248-chr7:107875494..107877512,3	K562	blood:
5	chr7:107864524..107869511-chr7:107871137..107874228,6	K562	blood:
6	chr7:107864840..107866705-chr7:107870457..107872843,3	K562	blood:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10224607	1.00[CEU][hapmap]
rs10257555	1.00[CEU][hapmap]
rs10464622	1.00[CEU][hapmap]
rs10464628	1.00[CEU][hapmap]
rs12531903	1.00[CEU][hapmap]
rs12669568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16872448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16872465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16872472	1.00[CEU][hapmap]
rs16872481	1.00[CEU][hapmap]
rs17155207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17155253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs17155277	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17155280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17155301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17155316	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17155345	1.00[CEU][hapmap]
rs17155362	1.00[CEU][hapmap]
rs17155369	1.00[CEU][hapmap]
rs2272618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2284279	1.00[CEU][hapmap]
rs2284281	1.00[CEU][hapmap]
rs2299988	1.00[CEU][hapmap]
rs2299998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2300008	1.00[CEU][hapmap]
rs2300010	1.00[CEU][hapmap]
rs2300011	1.00[CEU][hapmap]
rs3750140	1.00[CEU][hapmap]
rs3753152	1.00[CEU][hapmap]
rs3801929	1.00[CEU][hapmap]
rs6956041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6956711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6966259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6978117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7777092	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7777322	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7783944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7784319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7784353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7785181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:107852200-107875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:107852400-107875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:107852400-107876000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:107862600-107874400	Genic enhancers	A549	lung
7	chr7:107863200-107876000	Weak transcription	Pancreas	Pancrea
8	chr7:107863600-107872400	Weak transcription	HSMM	muscle
9	chr7:107863600-107876200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:107863800-107874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:107863800-107876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:107863800-107876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:107863800-107877200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:107866200-107874200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:107866400-107872200	Weak transcription	Osteobl	bone
16	chr7:107867400-107872400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:107867600-107874400	Weak transcription	NHDF-Ad	bronchial
18	chr7:107867600-107874600	Weak transcription	Fetal Intestine Small	intestine
19	chr7:107867800-107873600	Weak transcription	Fetal Intestine Large	intestine
20	chr7:107867800-107878000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:107868200-107873800	Weak transcription	K562	blood
22	chr7:107869600-107871600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:107869800-107871200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:107869800-107871200	Strong transcription	Brain Anterior Caudate	brain
25	chr7:107869800-107871400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:107869800-107872800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:107870000-107872200	Strong transcription	HUVEC	blood vessel
28	chr7:107870000-107876000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:107870200-107871200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:107870600-107876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:107870800-107871200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:107871000-107871200	Enhancers	HSMMtube	muscle
33	chr7:107871000-107872600	Enhancers	Muscle Satellite Cultured Cells	--

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