Variant report

Variant	rs7685914
Chromosome Location	chr4:7831463-7831464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7821478..7824762-chr4:7830984..7832919,3	K562	blood:
2	chr4:7813012..7814874-chr4:7831248..7833770,2	K562	blood:
3	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
4	chr4:7828718..7832914-chr4:7842245..7845071,3	K562	blood:
5	chr4:7824818..7826333-chr4:7830997..7833193,2	K562	blood:
6	chr4:7817490..7819833-chr4:7830199..7832039,2	K562	blood:
7	chr4:7817490..7820534-chr4:7830199..7832039,3	K562	blood:
8	chr4:7825242..7828581-chr4:7828624..7832177,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SORCS2-3	chr4:7824831-7831552	refGeneNc_1113_NR_026892

No data

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13148226	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28575363	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296679	0.84[LWK][hapmap];0.92[MKK][hapmap]
rs4689166	0.85[LWK][hapmap]
rs6446626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv522369	chr4:7826824-7831977	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7685914	AFAP	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
3	chr4:7824600-7834600	Genic enhancers	HUVEC	blood vessel
4	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
5	chr4:7825600-7852200	Weak transcription	Gastric	stomach
6	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
8	chr4:7826400-7833600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:7827600-7832400	Genic enhancers	Fetal Muscle Leg	muscle
11	chr4:7828000-7832400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:7828800-7833000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:7828800-7833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:7829000-7834200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:7829200-7833400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:7829400-7831600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:7829400-7831600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:7829400-7832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:7829400-7832200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:7829400-7832400	Genic enhancers	HSMM	muscle
21	chr4:7829400-7833400	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr4:7829400-7834200	Genic enhancers	NH-A	brain
23	chr4:7829800-7832200	Enhancers	Primary T cells from cord blood	blood
24	chr4:7829800-7832400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:7829800-7832800	Enhancers	Fetal Heart	heart
26	chr4:7830200-7831600	Enhancers	NHDF-Ad	bronchial
27	chr4:7830200-7831800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:7830200-7832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:7830200-7833400	Enhancers	NHLF	lung
30	chr4:7830400-7832400	Weak transcription	Lung	lung
31	chr4:7830400-7832600	Enhancers	Small Intestine	intestine
32	chr4:7830400-7832800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:7830400-7833000	Enhancers	K562	blood
34	chr4:7830400-7834200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
37	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:7830600-7831600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:7830600-7831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7830600-7831600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:7830600-7831800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:7830600-7831800	Enhancers	Fetal Intestine Small	intestine
43	chr4:7830600-7832200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:7830600-7832200	Enhancers	Colon Smooth Muscle	Colon
45	chr4:7830600-7832200	Enhancers	Fetal Lung	lung
46	chr4:7830600-7832200	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:7830600-7832400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr4:7830600-7832400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:7830600-7832400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr4:7830600-7832600	Weak transcription	Fetal Kidney	kidney

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