Variant report

Variant	rs12198675
Chromosome Location	chr6:36734358-36734359
allele	A/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36733851..36734590-chr6:36820298..36821123,2	K562	blood:
2	chr6:36733583..36737358-chr6:36839243..36844837,5	MCF-7	breast:
3	chr6:36733684..36734542-chr6:36818608..36819485,3	MCF-7	breast:
4	chr6:36733549..36734625-chr6:36985573..36986688,19	K562	blood:
5	chr6:36733625..36734537-chr6:36818632..36819486,5	K562	blood:
6	chr6:36733989..36734544-chr6:36946725..36947333,2	MCF-7	breast:
7	chr6:36733926..36735580-chr6:36737577..36739720,2	K562	blood:
8	chr6:36733716..36734606-chr6:36881681..36882305,2	MCF-7	breast:
9	chr6:36726753..36730019-chr6:36730894..36734737,3	K562	blood:
10	chr6:36733661..36734588-chr6:36750289..36750873,6	K562	blood:
11	chr6:36733614..36734738-chr6:36818383..36819576,11	MCF-7	breast:
12	chr6:36727502..36729456-chr6:36733982..36738042,3	K562	blood:
13	chr6:36732942..36735975-chr6:36816237..36818800,3	MCF-7	breast:
14	chr6:36733976..36734638-chr6:37177966..37178508,3	K562	blood:
15	chr6:36723524..36726204-chr6:36732546..36734917,2	K562	blood:
16	chr6:36733415..36734583-chr6:36985207..36986995,7	MCF-7	breast:
17	chr6:36734056..36736334-chr6:36826064..36827661,2	MCF-7	breast:
18	chr6:36732636..36735426-chr6:36737432..36739720,3	K562	blood:
19	chr6:36733877..36734566-chr6:36841546..36842101,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124772	Chromatin interaction
ENSG00000137168	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10807175	0.94[ASN][1000 genomes]
rs10947628	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13203743	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs236426	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs236445	0.86[ASN][1000 genomes]
rs4557518	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4714009	0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs916295	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs916297	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916304	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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 target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
2	chr6:36723800-36736200	Weak transcription	Right Atrium	heart
3	chr6:36724000-36736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:36724800-36734400	Weak transcription	Right Ventricle	heart
5	chr6:36725800-36735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:36726000-36736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:36727200-36736400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:36727400-36735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:36727400-36736200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:36732400-36734600	Enhancers	Fetal Brain Male	brain
11	chr6:36732400-36738600	Enhancers	Fetal Muscle Leg	muscle
12	chr6:36732600-36734600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:36732800-36734400	Enhancers	Fetal Brain Female	brain
14	chr6:36732800-36734600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:36732800-36738800	Enhancers	Primary B cells from cord blood	blood
16	chr6:36732800-36739000	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:36732800-36739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:36732800-36739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:36733000-36734400	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:36733000-36734400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:36733000-36734400	Enhancers	Placenta	Placenta
22	chr6:36733000-36734400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:36733000-36734400	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:36733000-36734600	Enhancers	Brain Hippocampus Middle	brain
25	chr6:36733000-36734600	Enhancers	Fetal Thymus	thymus
26	chr6:36733200-36734400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:36733200-36734400	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:36733200-36734400	Enhancers	Fetal Heart	heart
29	chr6:36733200-36734400	Enhancers	Fetal Intestine Small	intestine
30	chr6:36733200-36734400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:36733200-36734400	Enhancers	NHLF	lung
32	chr6:36733200-36734600	Enhancers	Brain Angular Gyrus	brain
33	chr6:36733200-36734600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:36733200-36738600	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:36733400-36734400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:36733400-36734400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:36733400-36734400	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:36733400-36734400	Flanking Active TSS	HSMMtube	muscle
39	chr6:36733400-36734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:36733400-36735200	Enhancers	Dnd41	blood
41	chr6:36733400-36737400	Weak transcription	Esophagus	oesophagus
42	chr6:36733400-36738600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:36733600-36734400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:36733600-36734600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:36733600-36734600	Enhancers	Brain Anterior Caudate	brain
46	chr6:36733600-36737000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:36733600-36740000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:36733800-36734400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:36733800-36734400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:36733800-36734600	Enhancers	Primary monocytes fromperipheralblood	blood

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