Variant report

Variant	rs34994807
Chromosome Location	chr12:8193900-8193901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8189818..8192986-chr12:8193522..8196804,4	K562	blood:
2	chr12:8188281..8192732-chr12:8193522..8196171,4	K562	blood:
3	chr12:7073156..7075161-chr12:8192732..8195144,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207708	Chromatin interaction
ENSG00000271969	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10846377	0.96[EUR][1000 genomes]
rs17801353	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3782681	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922169	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs722458	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7955798	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8191400-8200400	Weak transcription	Small Intestine	intestine
2	chr12:8191600-8196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:8191600-8205600	Strong transcription	Fetal Intestine Small	intestine
4	chr12:8191800-8194200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:8191800-8196200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:8191800-8196200	Weak transcription	HUVEC	blood vessel
7	chr12:8191800-8197800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:8191800-8198400	Weak transcription	A549	lung
9	chr12:8191800-8198600	Strong transcription	Spleen	Spleen
10	chr12:8191800-8202600	Strong transcription	Primary B cells from cord blood	blood
11	chr12:8191800-8208400	Strong transcription	Dnd41	blood
12	chr12:8192000-8194000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:8192000-8194400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:8192000-8194800	Weak transcription	NHDF-Ad	bronchial
15	chr12:8192000-8195000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:8192000-8195000	Weak transcription	Fetal Brain Male	brain
17	chr12:8192000-8195000	Weak transcription	HSMM	muscle
18	chr12:8192000-8196000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:8192000-8196000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:8192000-8196000	Weak transcription	Hela-S3	cervix
21	chr12:8192000-8196400	Weak transcription	HMEC	breast
22	chr12:8192000-8204000	Weak transcription	K562	blood
23	chr12:8192000-8208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:8192000-8208200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:8192000-8208600	Strong transcription	Fetal Stomach	stomach
26	chr12:8192000-8211000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:8192200-8194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:8192200-8195000	Weak transcription	Stomach Mucosa	stomach
29	chr12:8192200-8195600	Strong transcription	Brain Substantia Nigra	brain
30	chr12:8192200-8197400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:8192200-8198000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:8192200-8198800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:8192200-8201000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:8192200-8201200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:8192200-8201800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:8192200-8207600	Strong transcription	Placenta	Placenta
37	chr12:8192200-8207800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:8192200-8208000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:8192200-8208000	Strong transcription	Fetal Lung	lung
40	chr12:8192200-8208200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:8192200-8208200	Strong transcription	Fetal Intestine Large	intestine
42	chr12:8192200-8208400	Strong transcription	Liver	Liver
43	chr12:8192200-8208600	Strong transcription	Primary T cells from cord blood	blood
44	chr12:8192400-8194000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:8192400-8195000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:8192400-8195800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:8192400-8197400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:8192400-8197600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr12:8192400-8197600	Strong transcription	NHLF	lung
50	chr12:8192400-8197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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